Patient data are sorted by mutation combination frequency.

Reference:	Ashley et al, 2008; [PubMed] 1
Description:	Relatively Mild phenotype
Mutations:	L304R, L304R
Age group:	childhood
Age of Onset: 10, Age of Patient: n/a, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 2
Description:	CPEO, muscle weakness, ptosis, ataxia. 53% mtDNA copy number in blood.
Mutations:	L304R, L304R
Age group:	childhood
Age of Onset: n/a, Age of Patient: 10, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 3
Description:	CPEO, ptosis, ataxia, abnormal EMG/NCV, cerebellar atrophy, large mitochondrial proliferation, ragged red fibers, easy fatigability, abnormal muscle histology, hypotonia, lactic acidosis, high CSF lactate, organic aciduria/tiglyglycine, low plasma carnitine. 36% mtDNA copy number in muscle, 22% mtDNA copy number in blood.
Mutations:	L304R, L304R
Age group:	childhood
Age of Onset: n/a, Age of Patient: 9, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 4
Description:	Peripheral neuropathy exercise intolerance, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, lactic acidosis, CPK abnormalities, short stature, FTT, abnormal VERS, developmental delay, abnormal respiratory enzymes, ragged red fibers. 37% mtDNA copy number in muscle, 20% mtDNA copy number in blood.
Mutations:	L304R, L304R
Age group:	childhood
Age of Onset: n/a, Age of Patient: 12, Age of Death: n/a

Back to top

Reference:	Tang et al, 2011; [PubMed] 5
Description:	Peripheral neuropathy exercise intolerance, muscle weakness, easy fatigability, abnormal EMG/NCV, ptosis, CPK abnormalities, short stature, abnormal muscle histology, ragged red fibers, elevated pyruvate. 45% mtDNA copy number in blood.
Mutations:	L304R, L304R
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 23, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 6
Description:	Peripheral neuropathy, exercise intolerance, muscle weakness, abnormal EMG/NCV, ptosis, lactic acidosis, COX deficiency, CPEO. 58% mtDNA copy number in blood.
Mutations:	L304R, L304R
Age group:	childhood
Age of Onset: n/a, Age of Patient: 9, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 7
Description:	Seizures, ptosis, elevated transaminases, lactic acidosis, elevated dopamine, abnormal MRI. 48% mtDNA copy number in muscle, 26% mtDNA copy number in liver.
Mutations:	L304R, L304R
Age group:	infantile
Age of Onset: n/a, Age of Patient: 4, Age of Death: n/a

Reference:	Van Goethem et al, 2003a; [PubMed] 8
Description:	myopathy, PEO, dysarthria.
Mutations:	A467T, L304R
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: 37

Reference:	Van Goethem et al, 2003a; [PubMed] 9
Description:	sensory ataxic neuropathy, PEO, dysarthria.
Mutations:	A467T, L304R
Age group:	adult
Age of Onset: 25, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Van Goethem et al, 2001; [PubMed] 10
Description:	ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus.
Mutations:	A467T, L304R
Age group:	adult
Age of Onset: 25, Age of Patient: 38, Age of Death: n/a

Reference:	Van Goethem et al, 2001; [PubMed] 11
Description:	ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy.
Mutations:	A467T, L304R
Age group:	adult
Age of Onset: 24, Age of Patient: 34, Age of Death: n/a

Reference:	Van Goethem et al, 2001; [PubMed] 12
Description:	psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia.
Mutations:	A467T, L304R
Age group:	juvenile
Age of Onset: 16, Age of Patient: 28, Age of Death: n/a

Reference:	Bindu et al, 2016; [PubMed] 13
Description:	CPEO, Sensory motor axonal neuropathy
Mutations:	L304R
Age group:	adult
Age of Onset: n/a, Age of Patient: 26, Age of Death: n/a

Reference:	Bindu et al, 2016; [PubMed] 14
Description:	Mitochondrial spinocerebellar ataxia epilepsy syndrome, motor axonal neuropathy
Mutations:	L304R
Age group:	childhood
Age of Onset: n/a, Age of Patient: 6, Age of Death: n/a

Back to top

Reference:	Bindu et al, 2016; [PubMed] 15
Description:	SANDO syndrome, Sensory motor demyelinating neuropathy
Mutations:	L304R
Age group:	childhood
Age of Onset: n/a, Age of Patient: 10, Age of Death: n/a

Reference:	Horvath et al, 2006; [PubMed] 16
Description:	PEO, Neuropathy. Affect sibling.
Mutations:	L304R, P587L
SNPs:	T251I
Age group:	adult
Age of Onset: 60, Age of Patient: 68, Age of Death: n/a

Reference:	Horvath et al, 2006; [PubMed] 17
Description:	PEO, myopathy, ataxia.
Mutations:	L304R, P587L
SNPs:	T251I
Age group:	adult
Age of Onset: 45, Age of Patient: 74, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 18
Description:	Cerebral cavernous malformation, teen onset CPEO. 110% mtDNA copy number in blood.
Mutations:	A143V, L304R
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 22, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 19
Description:	Muscle weakness, ptosis, ophthalmoparesis/CPEO. 61% mtDNA copy number in blood.
Mutations:	G737R, L304R
Age group:	adult
Age of Onset: n/a, Age of Patient: 54, Age of Death: n/a

Back to top

Reference:	Naimi et al, 2006; [PubMed] 20
Description:	SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle.
Mutations:	L304R, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 20, Age of Patient: n/a, Age of Death: 27

Reference:	Tang et al, 2011; [PubMed] 21
Description:	Age 10, encephalopathy, ataxia, seizures, myoclonic seizures, pyramidal signs, dystonia, choria, muscle weakness, CPEO, ptosis, elevated alanine, abnormal EEG, MRS/lactate peak. 79% mtDNA copy number in blood.
Mutations:	L304R, R1081P
Age group:	childhood
Age of Onset: n/a, Age of Patient: 10, Age of Death: n/a

Reference:	Navarro-Sastre et al, 2012; [PubMed] 22
Description:	Alpers, psychomotor retardation, epileptic encephalopathy, progressive cerebral atrophy and altered liver enzymes, mtDNA depletion. Patient 9. Age of onset information obtained from corresponding author via email.
Mutations:	G888D, L304R
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 1.33

Reference:	Navarro-Sastre et al, 2012; [PubMed] 23
Description:	Alpers, intractable convulsions and severe epileptic status, high mtDNA depletion (8% residual mtDNA). Patient 10. Age of onset information obtained from corresponding author via email.
Mutations:	L304R
SNPs:	Y282D
Age group:	infantile
Age of Onset: 1.75, Age of Patient: n/a, Age of Death: n/a

Patient data are sorted by mutation combination frequency.

Reference:	Blok et al, 2009; [PubMed] 1
Description:	Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 47, Age of Death: n/a

Reference:	Ferrari et al, 2005; [PubMed] 2
Description:	An apparently myogenic torticollis was noticed after a few months of life; at 10 months, he had two episodes of sudden head drop, followed by the onset of psychomotor arrest/ regression, hypotonia, ataxia and focal myoclonus of the right upper limb. In the following weeks, the myoclonus became subcontinuous, and was associated with rapidly progressive, severe generalized hypotonia and weakness requiring ventilatory assistance. Seizures were partially controlled with a combination of topiramate, clobazam and phenylbarbiturate. symmetrical lesions of the basal ganglia, thalami, cerebellar dentate nuclei and left occipital cortical and subcortical regions. abnormal accumulation of lactic acid in the putamen and a reduction of the N-acetyl aspartate. cholestatic jaundice, hypoglycaemia and hypocoagulation. The diagnostic conclusion was Alpers syndrome.
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 0.2, Age of Patient: n/a, Age of Death: 2.5

Reference:	Ferrari et al, 2005; [PubMed] 3
Description:	disease-free interval in the first 4 months after birth, followed by persistent vomiting, epileptic crises with loss of eye contact, and myoclonus in the upper limbs with secondary generalization and loss of consciousness. Persistent myoclonus in the upper limbs was associated with profound hypotonia and loss of eye contact. cortical atrophy and leukoencephalopathy in the subcortical areas of the frontal lobes. progressive hepatic failure with enlarged liver, hypoalbuminaemia and predominantly cholestatic jaundice led to the death of the child at 8 months of age.
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 0.67

Reference:	Isohanni et al, 2011; [PubMed] 4
Description:	Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia.
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 11

Back to top

Reference:	Isohanni et al, 2011; [PubMed] 5
Description:	developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3.
Mutations:	T914P, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 2.5, Age of Patient: 3, Age of Death: n/a

Reference:	Isohanni et al, 2011; [PubMed] 6
Description:	epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle.
Mutations:	R807C, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 3

Reference:	Kollberg et al, 2006; [PubMed] 7
Description:	Alpers, age of onset 6 months, age of death 13 months. 41% mtDNA copy number. During the first 6 months of life, he was considered healthy, but was irritable with colic-like symptoms. failure to thrive, delayed motor development. myoclonus. leftsided hemiparesis.
Mutations:	R232H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.5, Age of Patient: n/a, Age of Death: 1.08

Reference:	Kollberg et al, 2006; [PubMed] 8
Description:	Ragged Red Fibers, COX-Deficient Fibers. mtDNA depletion. He was healthy and his development was normal until 5 months of age. He developed failure to thrive and muscular hypotonia. At 4 years of age, he developed myoclonus, which was first limited to the right eye and the right side of the mouth, but then progressed to epilepsia partialis continua of the entire left side of the body without loss of consciousness. He has developed a complex movement disorder and cognitive impairment, but contact, speech, and memory functions have been retained. He also had ptosis and uncontrolled and uncoordinated movements, especially in his arms.
Mutations:	E1163G, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.417, Age of Patient: n/a, Age of Death: n/a

Reference:	Kollberg et al, 2006; [PubMed] 9
Description:	Started as an ataxic syndrome, Alpers, ragged red fibers, COX-deficient fibers, mtDNA deletions. mtDNA copy numbers 1.6 fold. She was healthy and developed normally until her late preschool years when she developed slowly progressive ataxia. Occasional myoclonic seizures, and at 13 years of age, valproate treatment was started because of occipital seizures. ataxia, dementia, and cortical blindness. She developed refractory seizures, including multifocal EPC, status epilepticus, and myoclonus.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: 13, Age of Death: 14

Back to top

Reference:	Kollberg et al, 2006; [PubMed] 10
Description:	psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia. COX-deficient muscle fibers, mtDNA deletions, 160% mtDNA copy number. He was normal until 11 years of age when he developed mild tremor and ataxia. At 13 years of age, he reported occasional migraine-like headaches and was found to have mild ataxia and myoclonus. generalized seizures. mild leftsided hemiparesis, external ophthalmoplegia, and peripheral neuropathy.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 11, Age of Patient: 24, Age of Death: n/a

Reference:	Naimi et al, 2006; [PubMed] 11
Description:	SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle.
Mutations:	L304R, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 20, Age of Patient: n/a, Age of Death: 27

Reference:	Sarzi et al, 2007; [PubMed] 12
Description:	Myoclonus, epilepsy, Psychomotor retardation, Alpers syndrome, steatosis
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 0.25, Age of Patient: n/a, Age of Death: n/a

Reference:	Sarzi et al, 2007; [PubMed] 13
Description:	Onset with walking difficulties, seizures at 2.5 years, hepatocellular insufficiency after valproate treatment, alpers syndrome, Liver mtDNA depletion.
Mutations:	W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 2, Age of Patient: n/a, Age of Death: 3

Reference:	Stewart et al, 2009; [PubMed] 14
Description:	Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode.
Mutations:	R852C, W748S
SNPs:	E1143G, G11D
Age group:	infantile
Age of Onset: 1.33, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Taanman et al, 2009; [PubMed] 15
Description:	Hypotonia at 8 weeks, seizures, hepatopathy, lactic acidemia, died of liver failure. 9% mtDNA copy number in muscle, 11% mtDNA copy number in liver.
Mutations:	H1110Y, W748S
SNPs:	E1143G, Q1236H
Age group:	infantile
Age of Onset: 0.1, Age of Patient: n/a, Age of Death: 0.8

Reference:	Taanman et al, 2009; [PubMed] 16
Description:	Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver.
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 6.5, Age of Patient: n/a, Age of Death: 7.8

Reference:	Winterthun et al, 2005; [PubMed] 17
Description:	Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria.
Mutations:	Q497H, Q497H, W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 23, Age of Patient: 38, Age of Death: n/a

Reference:	Winterthun et al, 2005; [PubMed] 18
Description:	Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia.
Mutations:	Q497H, Q497H, W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: 18, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 19
Description:	Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay
Mutations:	A467T, Q497H, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Wong et al, 2008; [PubMed] 20
Description:	Muscle weakness, respiratory failure, Alpers, Lactic acidosis, Seizures, Demential , developmental delay
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	childhood
Age of Onset: 4, Age of Patient: n/a, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 21
Description:	Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 33, Age of Patient: n/a, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 22
Description:	developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: n/a

Reference:	Zsurka et al, 2008; [PubMed] 23
Description:	Epilepsy, seizures, VPA induced liver failure.
Mutations:	L752P, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 7, Age of Patient: n/a, Age of Death: 10

Reference:	Davidzon et al, 2005; [PubMed] 24
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.7, Age of Patient: n/a, Age of Death: 2.5

Back to top

Reference:	Davidzon et al, 2005; [PubMed] 25
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis,
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 6.5

Reference:	Davidzon et al, 2005; [PubMed] 26
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis.
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.1, Age of Patient: n/a, Age of Death: 0.9

Reference:	Davidzon et al, 2005; [PubMed] 27
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 1

Reference:	Nguyen et al, 2005; [PubMed] 28
Description:	Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 1.7

Reference:	Milone et al, 2011; [PubMed] 29
Description:	Stiffness, cramping of the lower extremities, foot numbness, and poor balance. The past medical history was significant for hypogonadotropic hypogonadism diagnosed 10 years prior. ophthalmoplegia without ptosis, mild lower proximal weakness, Multiple mtDNA deletions detected by PCR in muscle
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 33, Age of Death: n/a

Back to top

Reference:	Milone et al, 2011; [PubMed] 30
Description:	progressive unsteadiness,limb paresthesias, dysarthria, dysphagia, and weakness, ophthalmoparesis,dysarthria, palatal tremor, moderate axial and appendicular ataxia, and distal pan-modality sensory loss
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 33, Age of Death: n/a

Reference:	Komulainen et al, 2010; [PubMed] 31
Description:	mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed.
Mutations:	W748S
SNPs:	E1143G, R722H
Age group:	childhood
Age of Onset: 11, Age of Patient: 22, Age of Death: n/a

Reference:	Mousson de Camaret et al, 2011 [PubMed] 32
Description:	At 16 months of age, he started a severe status epilepticus. Cerebral MRI showed brain cortical atrophy. he developed intractable epileptic encephalopathy associated with generalized hypotonia and cortical blindness. diffuse hypotonia, lethargy and vomiting. During the two following years, epilepsy was always very active including spasms and myoclonic jerks. progressive hepatic failure. Alpers.
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 1.33, Age of Patient: n/a, Age of Death: 4.17

Reference:	Vasta et al, 2012; [PubMed] 33
Description:	PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay,
Mutations:	R852C, W748S
SNPs:	E1143G, G11D
Age group:	infantile
Age of Onset: 0.001, Age of Patient: n/a, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 34
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 38, Age of Patient: 44, Age of Death: n/a

Back to top

Reference:	Hakonen et al, 2005; [PubMed] 35
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 38, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 36
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, tremor, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, restricted eye movements, Psychiatric symptoms, Muscle strength decreased, Obesity, muscle cramps, amyotrophy, pes cavus, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 27, Age of Patient: 38, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 37
Description:	Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 46, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 38
Description:	Onset with balance disturbances, Gait and limb ataxia, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Psychiatric symptoms, premature menopause, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 27, Age of Patient: 42, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 39
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 24, Age of Patient: 55, Age of Death: n/a

Back to top

Reference:	Hakonen et al, 2005; [PubMed] 40
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 16, Age of Patient: 37, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 41
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, Dysarthria, other eye-movement abnormalities, Nystagmus, Cognitive impairment, Psychiatric symptoms, cramps, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 23, Age of Patient: 45, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 42
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, facial Involuntary movements, Dysarthria, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, cramps
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 45, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 43
Description:	Onset with epilepsy, Gait and limb ataxia, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Obesity, sensory neural hearing deficit, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: 44, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 44
Description:	Onset with headaches, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, restricted eye movements, ptosis, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 28, Age of Patient: 51, Age of Death: n/a

Back to top

Reference:	Hakonen et al, 2005; [PubMed] 45
Description:	Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 41, Age of Patient: 58, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 46
Description:	Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 47
Description:	Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: n/a, Age of Death: 35

Reference:	Tzoulis et al, 2006; [PubMed] 48
Description:	Presented with epilepsy and headaches, ataxia, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 6 weeks prior to death. Liver dysfunction, cause of death status epilepticus and liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: n/a, Age of Death: 19

Reference:	Tzoulis et al, 2006; [PubMed] 49
Description:	Presented with epilepsy and headaches, ataxia, epilepsy, status epilepticus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 14, Age of Patient: n/a, Age of Death: 23

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 50
Description:	Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65
Mutations:	W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 55, Age of Patient: 74, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 51
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 18, Age of Patient: 19, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 52
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset at age 28. Acute liver failure after 4 months of sodium valproate treatment
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: 33, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 53
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy. Sodium valproate treatment for 8 months. Stopped just prior to death. Liver dysfunction, cause of death liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 10, Age of Patient: n/a, Age of Death: 10

Reference:	Tzoulis et al, 2006; [PubMed] 54
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, nystagmus, myoclonus, neuropathy, treatment with sodium valproate for 2 months, died 3 years later due to status epilepticus, disseminated intravascular coagulation, liver failure.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 10, Age of Patient: n/a, Age of Death: 22

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 55
Description:	Presented with epilepsy, headaches, epilepsy, status epilepticus, headaches, nystagmus, and neuropathy. Sodium valproate treatment for 2 months then stopped 2 months prior to death. Liver dysfunction, liver transplant 1 month prior to death, cause of death liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 20, Age of Patient: n/a, Age of Death: 20

Reference:	Tzoulis et al, 2006; [PubMed] 56
Description:	Presented with epilepsy, status epilepticus, headaches, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 21

Reference:	Tzoulis et al, 2006; [PubMed] 57
Description:	Presented with epilepsy, status epilepticus, nystagmus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 18, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 58
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 38, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 59
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 3 months prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus and multi-organ failure. Acute liver necrosis
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 8, Age of Patient: n/a, Age of Death: 9

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 60
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 27, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 61
Description:	Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 12, Age of Patient: 38, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 62
Description:	Presented with progressive gait unsteadiness and headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy. Died 2 months after treatment with sodium valproate, cause of death status epilepticus
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 57

Reference:	Tzoulis et al, 2006; [PubMed] 63
Description:	Presented with progressive gait unsteadiness, ataxia, epilepsy, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset age 30. Mild liver dysfunction. Cause of death status epilepticus.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 4, Age of Patient: n/a, Age of Death: 30

Reference:	Tzoulis et al, 2006; [PubMed] 64
Description:	Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 50, Age of Death: n/a

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 65
Description:	Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 24, Age of Patient: 43, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 66
Description:	Presented with speech delay, ataxia, epilepsy, status epilepticus, and headaches. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus, multi-organ failure. Hepatic histology showed marked steatosis.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 8, Age of Patient: n/a, Age of Death: 9

Reference:	Paus et al, 2008; [PubMed] 67
Description:	Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 37, Age of Death: n/a

Reference:	Remes et al, 2008; [PubMed] 68
Description:	patient noticed gait and balance difficulties at age 46 years, ataxia, CPEO, cortical and cerebellar atrophy, axonal sensory polyneuropathy, Symmetrical bradykinesia and rigidity, mild tremor, paranoid delusions, During the last 2 years of life he had marked rigidity, dysphagia, myoclonic jerks and dystonia
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 46, Age of Patient: 65, Age of Death: n/a

Reference:	Uusimaa et al, 2008; [PubMed] 69
Description:	Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 14, Age of Patient: 15, Age of Death: n/a

Back to top

Reference:	Uusimaa et al, 2008; [PubMed] 70
Description:	Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 20

Reference:	Uusimaa et al, 2008; [PubMed] 71
Description:	Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 21, Age of Death: n/a

Reference:	Amiot et al, 2009; [PubMed] 72
Description:	Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement
Mutations:	A143V, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 40, Age of Patient: 49, Age of Death: n/a

Reference:	Palin et al, 2012; [PubMed] 73
Description:	Gait disturbance since childhood. Early onset suggested anticipation. In his 20's he developed photophobia and general clumsiness and benign paroxysmal positional vertigo. From the age of 37 he has had unspecific sensory polyneuropathy, confirmed by electromyography. He had several simple partial seizures at the age of 39, and has mild anxiety and depression.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: 41, Age of Death: n/a

Reference:	Palin et al, 2012; [PubMed] 74
Description:	No neurological symptoms, but type-2 diabetes and hypertension.
Mutations:	W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 63, Age of Death: n/a

Back to top

Reference:	Palin et al, 2012; [PubMed] 75
Description:	developed gait disturbance by the age of 35, progressing to increasing clumsiness in lower extremities, dysarthria, diplopia, and occasional amnesia at the age of 44. She developed ataxia, slight polyneuropathy, and external ophthalmoplegia. At the age of 46 she had slightly increased plasma creatine kinase levels and symmetrical cerebellar peduncular white matter signal intensity increase in brain MRI. The first epileptic seizure, requiring treatment by general anesthesia, oc- curred at the age of 55, after which she was hospitalized permanently. From her 30's, she received psychiatric care due to anxiety and depression. A neuropsychological examination revealed decrease in visual reasoning and memory functions. She deceased at the age of 56 due to pneumonia and pulmonary embolism.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 35, Age of Patient: n/a, Age of Death: 56

Reference:	Posada et al, 2010; [PubMed] 76
Description:	Ataxic sensory neuropathy, dysarthria, progressive ophthalmoplegia, paresthesia of lower extremities, unsteady gait, slurred speech, absent deep tendon reflexes, vibrations, ataxic gait and positive Romberg sign. Multiple mtDNA deletions, a marked decrease in mtDNA copy number.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 37, Age of Patient: 47, Age of Death: n/a

Reference:	Sofou et al, 2013; [PubMed] 77
Description:	Alpers/ Alpers–Huttenlocher.
Mutations:	Q497H, R852C, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:	Brunetti-Pierri et al, 2008; [PubMed] 78
Description:	He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.5, Age of Patient: 1.25, Age of Death: n/a

Reference:	Brunetti-Pierri et al, 2008; [PubMed] 79
Description:	He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.5, Age of Patient: 1.25, Age of Death: n/a

Back to top

Reference:	Brunetti-Pierri et al, 2008; [PubMed] 80
Description:	The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: n/a, Age of Patient: 0.6, Age of Death: 1

Reference:	Ylönen et al, 2013; [PubMed] 81
Description:	late-onset parkinsons. Tremor. Cardiac arrhythmia.
Mutations:	W748S
SNPs:	E1143G, R993C
Age group:	adult
Age of Onset: 72, Age of Patient: n/a, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 82
Description:	minor tremor of the hands from age 12 years. In his late 20s, he experienced tingling in both hands, followed by tingling in the legs. In the early fourth decade, he became unsteady at walking, especially in the dark. From his early 40s, his speech became slurred (dysarthria). On examination at age 52 years, he had an ataxic gait, and Romberg test was positive. There was dysarthria and bilateral ophthalmoparesis. generalized areflexia.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 12, Age of Patient: 52, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 83
Description:	plurimetabolic syndrome. At age 30 years, he noted disturbed balance, and ataxia and severe axonal neuropathy were diagnosed. On examination at age 32 years, he had slowed ocular pursuit movements but with full range of motion. He had severe gait ataxia, imbalance, and trunk ataxia, as well as clumsiness of the hands. Achilles tendon reflexes were absent. dysarthria, obesity, chronic motor axonopathy, moderate sensory neuropathy at the upper limbs, mild neurogenic atrophy.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 30, Age of Patient: 33, Age of Death: n/a

Reference:	Janssen et al, 2016; [PubMed] 84
Description:	Focal seizures with left visual field symptoms and motor signs. Neurological examination disclosed PEO, dysarthria, decreased reflexes, loss of proprioception distally in the legs, discrete pyramidal signs and appendicular ataxia on the left side with an ataxic gait. Mild cognitive decline was present. infratentorial white matter lesions, axonal polyneuropathy. negative myoclonus.
Mutations:	W748S, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 26, Age of Patient: 28, Age of Death: 33.5

Back to top

Reference:	Janssen et al, 2016; [PubMed] 85
Description:	Migraine, ataxia, polyneuropathy. focal seizures with visual symptoms and motor signs, and secondary generalized tonic-clonic seizure. Clinical neurological examination revealed an ataxic gait and areflexia with sensory loss. Convulsive status epilepticus. Cerebral MRI revealed a left occipital and left thalamic lesion.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 20, Age of Death: 23

Reference:	Janssen et al, 2016; [PubMed] 86
Description:	Presented with status epilepticus, occipital lobe seizures. Further neurologic examination showed ataxic gait and appendicular ataxia. chronic sensory axonal polyneuropathy. Cognitive decline. At follow-up consultation 6 months after the initial presentation, she had not experienced any more seizures.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 18, Age of Patient: 18.7, Age of Death: n/a

Reference:	Simonati et al, 2003b; [PubMed] 87
Description:	epilepsia partialis continua at 10 months, pyramido-cerebellar syndrome 19 months, myoclonic seizures when 4.5 years old. myoclonic jerks. At the age of 8 years, a brain CT scan showed atrophy of the right occipital cortex. signs and symptoms of liver dysfunction. chronic progressive liver disease. diffuse cortical atrophy. myoclonic epilepsy became resistant to any medication, myoclonic status along with episodes of respiratory failure. His clinical condition rapidly worsened and led to a vegetative state.
Mutations:	L244P, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.8, Age of Patient: 9, Age of Death: 15

Reference:	Simonati et al, 2003b; [PubMed] 88
Description:	myoclonic fits of the right limbs and then a dystonic-ataxic syndrome at the age of 5 months. He had a rapid clinical deterioration. At age 6 months, a brain CT scan showed diffuse cortical atrophy. acute hepatic failure.
Mutations:	L244P, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.42, Age of Patient: n/a, Age of Death: 1.1

Reference:	Stewart et al, 2009; [PubMed] 89
Description:	Ataxia, PEO, axonal neuropathy, cerebellar atrophy. 3% COX deficient fibers.
Mutations:	G746S, G848S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Hisama et al, 2005; [PubMed] 90
Description:	Presented with ataxia and transient diplopia at age 25 and showed ptosis, external ophthalmoplegia, nystagmus, had a mild tremor of outstretched hands, marked dysmetria, Romberg sign, severe ataxia, was unable to stand on one foot, multiple mtDNA deletions in muscle.
Mutations:	A889T
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 25, Age of Death: n/a

Reference:	Hisama et al, 2005; [PubMed] 91
Description:	presented at age 7 years with gait difficulty and pes cavus. He developed upper extremity tremor, scanning speech, and horizontal nystagmus by age 15. at age 20 showed ptosis, external ophthalmoplegia, mildly decreased vibration and pin prick sensation, intention tremor, absent ankle and brachioradialis reflexes, and ataxic gait. Over the next 5 years, he experienced progression of the ptosis and ophthalmoplegia. The tremor became disabling at rest and with action, and he became wheelchair-dependent.
Mutations:	A889T
SNPs:	E1143G
Age group:	childhood
Age of Onset: 7, Age of Patient: 20, Age of Death: n/a

Reference:	McFarland et al, 2008; [PubMed] 92
Description:	Presented with epilepsy following minor head trauma, 2 months after valproate treatment developed persistent vomiting and encephalopathy, deranged liver function tests, prolonged clotting, elevated ammonia, and a high plasma lactate, Hepatic dysfunction progressed,
Mutations:	A467T, Q879H, T885S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 2, Age of Patient: n/a, Age of Death: n/a

Reference:	Hudson et al, 2006; [PubMed] 93
Description:	PEO, ataxia, peripheral neuropathy, and episodes of encephalopathy. Asymptomatic mother had also S433C.
Mutations:	S433C
SNPs:	E1143G
Age group:	unknown
Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 94
Description:	Onset at age 3 with dementia,lactic acidosis, renal tubulopathy, dysmorphic features, cataract, short stature, myopathy.
Mutations:	G737R, R943C
SNPs:	E1143G
Age group:	childhood
Age of Onset: 3, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Luoma et al, 2007; [PubMed] 95
Description:	Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Also had Histiocytosis and breast cancer
Mutations:
SNPs:	E1143G
Age group:	adult
Age of Onset: 47, Age of Patient: 67, Age of Death: n/a

Patient data are sorted by mutation combination frequency.

Reference:	Blok et al, 2009; [PubMed] 1
Description:	Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 47, Age of Death: n/a

Reference:	Kollberg et al, 2006; [PubMed] 2
Description:	Started as an ataxic syndrome, Alpers, ragged red fibers, COX-deficient fibers, mtDNA deletions. mtDNA copy numbers 1.6 fold. She was healthy and developed normally until her late preschool years when she developed slowly progressive ataxia. Occasional myoclonic seizures, and at 13 years of age, valproate treatment was started because of occipital seizures. ataxia, dementia, and cortical blindness. She developed refractory seizures, including multifocal EPC, status epilepticus, and myoclonus.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: 13, Age of Death: 14

Reference:	Kollberg et al, 2006; [PubMed] 3
Description:	psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia. COX-deficient muscle fibers, mtDNA deletions, 160% mtDNA copy number. He was normal until 11 years of age when he developed mild tremor and ataxia. At 13 years of age, he reported occasional migraine-like headaches and was found to have mild ataxia and myoclonus. generalized seizures. mild leftsided hemiparesis, external ophthalmoplegia, and peripheral neuropathy.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 11, Age of Patient: 24, Age of Death: n/a

Reference:	Sarzi et al, 2007; [PubMed] 4
Description:	Onset with walking difficulties, seizures at 2.5 years, hepatocellular insufficiency after valproate treatment, alpers syndrome, Liver mtDNA depletion.
Mutations:	W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 2, Age of Patient: n/a, Age of Death: 3

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 5
Description:	Presented with epilepsy and headaches, ataxia, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 6 weeks prior to death. Liver dysfunction, cause of death status epilepticus and liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: n/a, Age of Death: 19

Reference:	Tzoulis et al, 2006; [PubMed] 6
Description:	Presented with epilepsy and headaches, ataxia, epilepsy, status epilepticus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 14, Age of Patient: n/a, Age of Death: 23

Reference:	Tzoulis et al, 2006; [PubMed] 7
Description:	Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65
Mutations:	W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 55, Age of Patient: 74, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 8
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy. Sodium valproate treatment for 8 months. Stopped just prior to death. Liver dysfunction, cause of death liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 10, Age of Patient: n/a, Age of Death: 10

Reference:	Tzoulis et al, 2006; [PubMed] 9
Description:	Presented with epilepsy, headaches, epilepsy, status epilepticus, headaches, nystagmus, and neuropathy. Sodium valproate treatment for 2 months then stopped 2 months prior to death. Liver dysfunction, liver transplant 1 month prior to death, cause of death liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 20, Age of Patient: n/a, Age of Death: 20

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 10
Description:	Presented with epilepsy, status epilepticus, headaches, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 21

Reference:	Tzoulis et al, 2006; [PubMed] 11
Description:	Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 50, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 12
Description:	Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 24, Age of Patient: 43, Age of Death: n/a

Reference:	Paus et al, 2008; [PubMed] 13
Description:	Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 37, Age of Death: n/a

Reference:	Amiot et al, 2009; [PubMed] 14
Description:	Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement
Mutations:	A143V, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 40, Age of Patient: 49, Age of Death: n/a

Back to top

Reference:	Palin et al, 2012; [PubMed] 15
Description:	No neurological symptoms, but type-2 diabetes and hypertension.
Mutations:	W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 63, Age of Death: n/a

Reference:	Posada et al, 2010; [PubMed] 16
Description:	Ataxic sensory neuropathy, dysarthria, progressive ophthalmoplegia, paresthesia of lower extremities, unsteady gait, slurred speech, absent deep tendon reflexes, vibrations, ataxic gait and positive Romberg sign. Multiple mtDNA deletions, a marked decrease in mtDNA copy number.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 37, Age of Patient: 47, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 17
Description:	minor tremor of the hands from age 12 years. In his late 20s, he experienced tingling in both hands, followed by tingling in the legs. In the early fourth decade, he became unsteady at walking, especially in the dark. From his early 40s, his speech became slurred (dysarthria). On examination at age 52 years, he had an ataxic gait, and Romberg test was positive. There was dysarthria and bilateral ophthalmoparesis. generalized areflexia.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 12, Age of Patient: 52, Age of Death: n/a

Reference:	Janssen et al, 2016; [PubMed] 18
Description:	Migraine, ataxia, polyneuropathy. focal seizures with visual symptoms and motor signs, and secondary generalized tonic-clonic seizure. Clinical neurological examination revealed an ataxic gait and areflexia with sensory loss. Convulsive status epilepticus. Cerebral MRI revealed a left occipital and left thalamic lesion.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 20, Age of Death: 23

Reference:	Janssen et al, 2016; [PubMed] 19
Description:	Presented with status epilepticus, occipital lobe seizures. Further neurologic examination showed ataxic gait and appendicular ataxia. chronic sensory axonal polyneuropathy. Cognitive decline. At follow-up consultation 6 months after the initial presentation, she had not experienced any more seizures.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 18, Age of Patient: 18.7, Age of Death: n/a

Back to top

Reference:	Ashley et al, 2008; [PubMed] 20
Description:	reported as Alpers, onset at 16 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 108% mtDNA copy number in muscle.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: n/a

Reference:	Schulte et al, 2009; [PubMed] 21
Description:	cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, epilepsy, moderate cerebellar atrophy.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 22, Age of Patient: n/a, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 22
Description:	Ataxia, peripheral neuropathy, exercise intolerance, easy fatigueability, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 30, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 23
Description:	Headaches/migraines, ataxia, peripheral neuropathy, exercise intolerance, ophthalmoporesis/CPEO, abnormal EMG/NCV, ptosis, constipation, pseudo-obstruction, hearing loss, abnormal BAERS. 83% mtDNA copy number in blood.
Mutations:	W748S, W748S
SNPs:	S28C
Age group:	adult
Age of Onset: n/a, Age of Patient: 25, Age of Death: n/a

Reference:	Winterthun et al, 2005; [PubMed] 24
Description:	Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria.
Mutations:	Q497H, Q497H, W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 23, Age of Patient: 38, Age of Death: n/a

Back to top

Reference:	Winterthun et al, 2005; [PubMed] 25
Description:	Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia.
Mutations:	Q497H, Q497H, W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: 18, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 26
Description:	Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 33, Age of Patient: n/a, Age of Death: n/a

Reference:	Milone et al, 2011; [PubMed] 27
Description:	Stiffness, cramping of the lower extremities, foot numbness, and poor balance. The past medical history was significant for hypogonadotropic hypogonadism diagnosed 10 years prior. ophthalmoplegia without ptosis, mild lower proximal weakness, Multiple mtDNA deletions detected by PCR in muscle
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 33, Age of Death: n/a

Reference:	Milone et al, 2011; [PubMed] 28
Description:	progressive unsteadiness,limb paresthesias, dysarthria, dysphagia, and weakness, ophthalmoparesis,dysarthria, palatal tremor, moderate axial and appendicular ataxia, and distal pan-modality sensory loss
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 33, Age of Death: n/a

Reference:	Pelayo-Negro et al, 2012; [PubMed] 29
Description:	ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 30, Age of Patient: 51, Age of Death: n/a

Back to top

Reference:	Tang et al, 2012; [PubMed] 30
Description:	migraine, ptosis, PEO, exercise intolerance, sensorimotor peripheral neuropathy, ataxia, pseudoobstruction, constipation, and sensorineural hearing loss,
Mutations:	W748S, W748S
SNPs:	S28C
Age group:	adult
Age of Onset: n/a, Age of Patient: 25, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 31
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 38, Age of Patient: 44, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 32
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 38, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 33
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, tremor, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, restricted eye movements, Psychiatric symptoms, Muscle strength decreased, Obesity, muscle cramps, amyotrophy, pes cavus, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 27, Age of Patient: 38, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 34
Description:	Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 46, Age of Death: n/a

Back to top

Reference:	Hakonen et al, 2005; [PubMed] 35
Description:	Onset with balance disturbances, Gait and limb ataxia, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Psychiatric symptoms, premature menopause, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 27, Age of Patient: 42, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 36
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 24, Age of Patient: 55, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 37
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 16, Age of Patient: 37, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 38
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, Dysarthria, other eye-movement abnormalities, Nystagmus, Cognitive impairment, Psychiatric symptoms, cramps, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 23, Age of Patient: 45, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 39
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, facial Involuntary movements, Dysarthria, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, cramps
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 45, Age of Death: n/a

Back to top

Reference:	Hakonen et al, 2005; [PubMed] 40
Description:	Onset with epilepsy, Gait and limb ataxia, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Obesity, sensory neural hearing deficit, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: 44, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 41
Description:	Onset with headaches, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, restricted eye movements, ptosis, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 28, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 42
Description:	Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 41, Age of Patient: 58, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 43
Description:	Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 44
Description:	Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: n/a, Age of Death: 35

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 45
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 18, Age of Patient: 19, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 46
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset at age 28. Acute liver failure after 4 months of sodium valproate treatment
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: 33, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 47
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, nystagmus, myoclonus, neuropathy, treatment with sodium valproate for 2 months, died 3 years later due to status epilepticus, disseminated intravascular coagulation, liver failure.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 10, Age of Patient: n/a, Age of Death: 22

Reference:	Tzoulis et al, 2006; [PubMed] 48
Description:	Presented with epilepsy, status epilepticus, nystagmus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 18, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 49
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 38, Age of Death: n/a

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 50
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 3 months prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus and multi-organ failure. Acute liver necrosis
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 8, Age of Patient: n/a, Age of Death: 9

Reference:	Tzoulis et al, 2006; [PubMed] 51
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 27, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 52
Description:	Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 12, Age of Patient: 38, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 53
Description:	Presented with progressive gait unsteadiness and headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy. Died 2 months after treatment with sodium valproate, cause of death status epilepticus
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 57

Reference:	Tzoulis et al, 2006; [PubMed] 54
Description:	Presented with progressive gait unsteadiness, ataxia, epilepsy, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset age 30. Mild liver dysfunction. Cause of death status epilepticus.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 4, Age of Patient: n/a, Age of Death: 30

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 55
Description:	Presented with speech delay, ataxia, epilepsy, status epilepticus, and headaches. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus, multi-organ failure. Hepatic histology showed marked steatosis.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 8, Age of Patient: n/a, Age of Death: 9

Reference:	Johansen et al, 2008; [PubMed] 56
Description:	Presented with focal epileptic seizures, external ophthalmoplegia and gait unsteadiness. At age 28, during her first pregnancy, she was admitted with focal epileptic seizures that were highly resistant to treatment. Two months later her symptoms worsened and included myoclonic jerks in the extremities and facial dyskinesias. Treatment with sodium valproate resulted in acute severe hepatic failure and she underwent a successful liver transplantation. At 35 mild cognitive deficit, cerebellar dysarthria, palatal tremor, facial dyskinesias, myoclonus, cerebellar and sensory ataxia and signs of peripheral neuropathy with loss of reflexes and sensory disturbance were also present
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 19, Age of Patient: 35, Age of Death: n/a

Reference:	Remes et al, 2008; [PubMed] 57
Description:	patient noticed gait and balance difficulties at age 46 years, ataxia, CPEO, cortical and cerebellar atrophy, axonal sensory polyneuropathy, Symmetrical bradykinesia and rigidity, mild tremor, paranoid delusions, During the last 2 years of life he had marked rigidity, dysphagia, myoclonic jerks and dystonia
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 46, Age of Patient: 65, Age of Death: n/a

Reference:	Uusimaa et al, 2008; [PubMed] 58
Description:	Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 14, Age of Patient: 15, Age of Death: n/a

Reference:	Uusimaa et al, 2008; [PubMed] 59
Description:	Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 20

Back to top

Reference:	Uusimaa et al, 2008; [PubMed] 60
Description:	Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 21, Age of Death: n/a

Reference:	Rouzier et al, 2013; [PubMed] 61
Description:	Parkinsonism, multiple mtDNA deletions. SANDO, Sensory ataxic neuropathy dysarthria and ophtalmoparesis.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 37, Age of Patient: n/a, Age of Death: n/a

Reference:	Palin et al, 2012; [PubMed] 62
Description:	Gait disturbance since childhood. Early onset suggested anticipation. In his 20's he developed photophobia and general clumsiness and benign paroxysmal positional vertigo. From the age of 37 he has had unspecific sensory polyneuropathy, confirmed by electromyography. He had several simple partial seizures at the age of 39, and has mild anxiety and depression.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: 41, Age of Death: n/a

Reference:	Palin et al, 2012; [PubMed] 63
Description:	developed gait disturbance by the age of 35, progressing to increasing clumsiness in lower extremities, dysarthria, diplopia, and occasional amnesia at the age of 44. She developed ataxia, slight polyneuropathy, and external ophthalmoplegia. At the age of 46 she had slightly increased plasma creatine kinase levels and symmetrical cerebellar peduncular white matter signal intensity increase in brain MRI. The first epileptic seizure, requiring treatment by general anesthesia, oc- curred at the age of 55, after which she was hospitalized permanently. From her 30's, she received psychiatric care due to anxiety and depression. A neuropsychological examination revealed decrease in visual reasoning and memory functions. She deceased at the age of 56 due to pneumonia and pulmonary embolism.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 35, Age of Patient: n/a, Age of Death: 56

Reference:	Tzoulis et al, 2013; [PubMed] 64
Description:	Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12, Age of Patient: 45, Age of Death: n/a

Back to top

Reference:	Tzoulis et al, 2013; [PubMed] 65
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 6, Age of Patient: n/a, Age of Death: 41

Reference:	Tzoulis et al, 2013; [PubMed] 66
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12, Age of Patient: n/a, Age of Death: 28

Reference:	Tzoulis et al, 2013; [PubMed] 67
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: 24

Reference:	Tzoulis et al, 2013; [PubMed] 68
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: 43

Reference:	Tzoulis et al, 2013; [PubMed] 69
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: 34, Age of Death: n/a

Back to top

Reference:	Sitarz et al, 2014; [PubMed] 70
Description:	Ataxia, neuropathy, PEO, MIRAS.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 36, Age of Death: n/a

Reference:	Tzoulis et al, 2014; [PubMed] 71
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 24

Reference:	Tzoulis et al, 2014; [PubMed] 72
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 6, Age of Patient: n/a, Age of Death: 41

Reference:	Tzoulis et al, 2014; [PubMed] 73
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12, Age of Patient: n/a, Age of Death: 28

Reference:	Tzoulis et al, 2014; [PubMed] 74
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 57

Back to top

Reference:	Tzoulis et al, 2014; [PubMed] 75
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: 24

Reference:	Tzoulis et al, 2014; [PubMed] 76
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: 43

Reference:	Tzoulis et al, 2014; [PubMed] 77
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy.
Mutations:	W748S, W748S
Age group:	infantile
Age of Onset: 2, Age of Patient: n/a, Age of Death: 13

Reference:	Schicks et al, 2010; [PubMed] 78
Description:	PEO, epilepsy, early-onset cerebellar ataxia. Dysarthria, sensory neuropathy, Cerebellar atrophy.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 22, Age of Patient: n/a, Age of Death: n/a

Reference:	Schicks et al, 2010; [PubMed] 79
Description:	early-onset ataxia, epilepsy, sensory neuropathy.
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12.5, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Synofzik et al, 2010; [PubMed] 80
Description:	Dystonia of both arms, with predominant dystonic ulnar deviation of the right upper limb with jerky wrist and finger movements. Also her feet show unpatterend jerky movements, which may be classified as myoclonus but are also similar to limb movements in benign hereditary chorea. external ophthalmoplegia, slowing of voluntary saccades and gait ataxia started.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 33, Age of Patient: n/a, Age of Death: n/a

Reference:	Synofzik et al, 2010; [PubMed] 81
Description:	dystonic ulnar deviation of the left upper limb with distal predominance. She showed intermittent facial and jaw opening dystonia. At rest, she had marked postural instability caused by trunk ataxia, which is aggravated by motor actions like e.g. lifting the upper limbs. severe dysarthria, incomplete horizontal and vertical external ophthalmoplegia and ataxia were observed as clinical features of MIRAS. Patient 2 was only able to stand assisted for a few seconds.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 40, Age of Patient: n/a, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 82
Description:	plurimetabolic syndrome. At age 30 years, he noted disturbed balance, and ataxia and severe axonal neuropathy were diagnosed. On examination at age 32 years, he had slowed ocular pursuit movements but with full range of motion. He had severe gait ataxia, imbalance, and trunk ataxia, as well as clumsiness of the hands. Achilles tendon reflexes were absent. dysarthria, obesity, chronic motor axonopathy, moderate sensory neuropathy at the upper limbs, mild neurogenic atrophy.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 30, Age of Patient: 33, Age of Death: n/a

Reference:	Arkadir et al, 2015; [PubMed] 83
Description:	A 30-year-old man with sensorineural hearing loss presented with subacute somnolence, slurred speech, and unsteady gait following treatment with peginterferon a-2b and ribavirin for chronic hepatitis C virus. Examination revealed scanning speech, horizontal nystagmus, gait ataxia, and symmetric hyporeflexia with distal sensory loss. Bilateral hypertrophic olivary degeneration.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 30, Age of Death: n/a

Reference:	Henao et al, 2016; [PubMed] 84
Description:	a unique combination of lesions in the thalamus, cerebellum and inferior olivary nucleus. ataxia, dysarthria, external ophthalmoparesis, generalized areflexia, abnormal leg pallesthesia, wide-based gait, positive, Romberg test, dysmetria, and a predominantly left dysdiadochokinesia. distal sensorimotor neuropathy.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 24, Age of Patient: 29, Age of Death: n/a

Back to top

Reference:	Paucar et al, 2016; [PubMed] 85
Description:	progressive balance difficulties, impaired gait and coordination (ataxia), slurred speech, diplopia, and hypoacusis, insidious cognitive decline, esophoria. Upon exam, signs of both cerebellar and sensory ataxia (positive Romberg’s sign) as well as chorea, myoclonus, areflexia, and complete loss of vibration sense were found. Bradykinesia and marked postural instability. Eye examination revealed broken up smooth pursuit, nystagmus, mild dysconjugation of lateral eye movements, hypometric saccades and partial restriction of vertical gaze. Psychometric evaluation revealed deficits in information processing speed, working memory, attention, and visuospatial skills. A mild sensorineuronal hearing loss.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 48, Age of Patient: 60, Age of Death: n/a

Reference:	Janssen et al, 2016; [PubMed] 86
Description:	Focal seizures with left visual field symptoms and motor signs. Neurological examination disclosed PEO, dysarthria, decreased reflexes, loss of proprioception distally in the legs, discrete pyramidal signs and appendicular ataxia on the left side with an ataxic gait. Mild cognitive decline was present. infratentorial white matter lesions, axonal polyneuropathy. negative myoclonus.
Mutations:	W748S, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 26, Age of Patient: 28, Age of Death: 33.5

Reference:	Janssen et al, 2016; [PubMed] 87
Description:	He presented with two focal seizures with jerking of the right arm and leg. Brain imaging showed a T2-hyperintense lesion in the left frontal lobe. Focal status epilepticus characterized by visual hallucinations in the left visual fields. An appendicular ataxia, nystagmus and areflexia. His level of consciousness deteriorated, evolving into a refractory subtle SE. The patient died eventually after 5 months of continuous epileptic activity due to a septic shock.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: 20, Age of Death: 20

Reference:	Blok et al, 2009; [PubMed] 88
Description:	MELAS-like, features including occipital lobe epilepsy.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 19, Age of Death: n/a

Reference:	Blok et al, 2009; [PubMed] 89
Description:	Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 40, Age of Death: n/a

Back to top

Reference:	Horvath et al, 2006; [PubMed] 90
Description:	Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: n/a, Age of Death: n/a

Reference:	Schulte et al, 2009; [PubMed] 91
Description:	Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: n/a, Age of Death: n/a

Reference:	Stewart et al, 2009; [PubMed] 92
Description:	PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 39, Age of Patient: n/a, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 93
Description:	Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 18, Age of Death: n/a

Reference:	Hansen et al, 2012; [PubMed] 94
Description:	gait instability, manual coordination disorder, speech disturbance and secondary generalized motor seizures, tension-type headaches, complete external ophthalmoplegia, cerebellar dysarthria and ataxia, sensory ataxia in Romberg-testing, areflexia of the lower extremities, mild cognitive dysfunction, epileptic seizures, generalised cortical atrophy, sensory axonal neuropathy, dysarthria
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 23, Age of Patient: 48, Age of Death: n/a

Back to top

Reference:	Kinghorn et al, 2012; [PubMed] 95
Description:	Ataxia, dysarthria, suffered two generalized seizures, and developed severe progressive cognitive decline and psychiatric manifestations including visual and auditory hallucinations, bilateral external ophthalmoplegia, bilateral ptosis, and reduced visual acuities, bilateral sensorineural hearing loss, proximal muscle weakness in all four limbs and was areflexic, severe sensory neuropathy and myopathy,
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 18, Age of Death: 65

Reference:	Kinghorn et al, 2012; [PubMed] 96
Description:	Diplopia, partial ophthalmoparesis in all directions of gaze and dysarthria, sensory neuropathy, COX-deficient fibers, multiple mtDNA deletions,
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 50, Age of Death: n/a

Reference:	Pelayo-Negro et al, 2012; [PubMed] 97
Description:	ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 30, Age of Patient: 50, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 98
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, Severe sensory, moderate motor axonal neuronopathy, Distal neurogenic, proximal myopathy
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 41, Age of Patient: 48, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 99
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: 47, Age of Death: n/a

Back to top

Reference:	Lax et al, 2012a; [PubMed] 100
Description:	Peripheral neuropathy, ataxia, epilepsy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Moderate sensory neuronopathy
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: 18, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 101
Description:	Peripheral neuropathy, ataxia, epilepsy, presence of mitochondrial dna deletions in muscle,
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 20, Age of Patient: 24, Age of Death: n/a

Reference:	Paus et al, 2008; [PubMed] 102
Description:	episodic headache, cognitive decline, and seizures, repeatedly resulting in generalized status epilepticus, ataxia, sensorimotor peripheral neuropathy, dysarthria, PEO with diplopia, mild bilateral ptosis, epilepsy, cognitive impairment, myoclonus,
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 28, Age of Patient: 39, Age of Death: n/a

Reference:	Rouzier et al, 2013; [PubMed] 103
Description:	R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: n/a

Reference:	Roshal et al, 2011; [PubMed] 104
Description:	Focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory–motor axonal neuropathy, and impairment of visual perception and cognitive function.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 15, Age of Patient: 16, Age of Death: n/a

Back to top

Reference:	Tuladhar et al, 2013; [PubMed] 105
Description:	abnormal gait, ataxia, PEO, and jerky torticollis, mild cerebellar atrophy, sensory neuronopathy.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 43, Age of Patient: 45, Age of Death: n/a

Reference:	Tzoulis et al, 2013; [PubMed] 106
Description:	Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 24, Age of Patient: 50, Age of Death: n/a

Reference:	Tzoulis et al, 2013; [PubMed] 107
Description:	Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 36, Age of Patient: 58, Age of Death: n/a

Reference:	Hanisch et al, 2014; [PubMed] 108
Description:	Ataxia, ptosis, mild cognitive impairment, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 41, Age of Patient: 45, Age of Death: n/a

Reference:	Hanisch et al, 2014; [PubMed] 109
Description:	Ataxia, ptosis, pareses, diabetes, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 49, Age of Patient: 56, Age of Death: n/a

Back to top

Reference:	Lax et al, 2012b; [PubMed] 110
Description:	Ataxia, Epilepsy, Dementia, Encephalopathy, Myoclonus, Fatigue, Depression, Dysarthria, Cardiac failure, cardiomyopathy, Diabetes, arPEO, Ischemic heart disease.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 20, Age of Patient: 24, Age of Death: n/a