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44 patient data entries in database for mutations W748S and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
79W748S5
E1143G
A467T2
Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
-cerebellar ataxia
-movement disorder (ataxia)
-polyneuropathy
-ptosis
-PEO
-dysarthria
adult
n/a47n/aBlok et al, 2009;

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90W748S5
A467T2
MELAS-like, features including occipital lobe epilepsy.
-epilepsy
juvenile
n/a19n/aBlok et al, 2009;

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122W748S5
A467T2
Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes.
-movement disorder (ataxia)
-myopathy
-PEO
-dysphagia
adult
34n/an/aHorvath et al, 2006;

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123W748S5
A467T2
Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression.
-PEO
-dysarthria
adult
34n/an/aSchulte et al, 2009;

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124W748S5
A467T2
PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF.
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-ptosis
-PEO
-dysarthria
-bilateral deafness
adult
39n/an/aStewart et al, 2009;

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125W748S5
A467T2
Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood.
-intractable seizure
-movement disorder (ataxia)
-optic atrophy
-stroke
-headache/ migraine
-dystonia
juvenile
n/a18n/aTang et al, 2011;

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129W748S5
A467T2
Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia.
-myoclonic seizures
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-polyneuropathy
-cognitive delay
adult
n/a40n/aBlok et al, 2009;

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233W748S5
E1143G
A467T2
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.
-myoclonic seizures
-hemiparesis
-intractable seizure
-movement disorder (ataxia)
-peripheral neuropathy
-cox-deficient muscle
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-headache/ migraine
-stroke-like episodes
-tremor
childhood
1124n/aKollberg et al, 2006;

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338W748S5
A467T2
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
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-ophthalmoplegia
-external ophthalmoplegia
-headache/ migraine
-dysarthria
-areflexia
adult
2348n/aHansen et al, 2012;

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341A467T2
W748S5
Diplopia, partial ophthalmoparesis in all directions of gaze and dysarthria, sensory neuropathy, COX-deficient fibers, multiple mtDNA deletions,
-PEO
-diplopia
-dysarthria
adult
n/a50n/aKinghorn et al, 2012;

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342A467T2
W748S5
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,
-movement disorder (ataxia)
-muscle weakness
-myopathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-dysarthria
-hearing loss
juvenile
n/a1865Kinghorn et al, 2012;

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344A467T2
W748S5
ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
-movement disorder (ataxia)
-PEO
-dysarthria
adult
3050n/aPelayo-Negro et al, 2012;

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360W748S5
A467T2
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
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
adult
3447n/aLax et al, 2012a;

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362W748S5
A467T2
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
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-ptosis
-PEO
adult
4148n/aLax et al, 2012a;

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363W748S5
A467T2
Peripheral neuropathy, ataxia, epilepsy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Moderate sensory neuronopathy
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
juvenile
1618n/aLax et al, 2012a;

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364W748S5
A467T2
Peripheral neuropathy, ataxia, epilepsy, presence of mitochondrial dna deletions in muscle,
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
adult
2024n/aLax et al, 2012a;

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383W748S5
E1143G
A467T2
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.
-status epilepticus
-epilepsy
-liver failure
-liver dysfunction
-headache/ migraine
-nystagmus
adult
20n/a20Tzoulis et al, 2006;

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384W748S5
E1143G
A467T2
Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
adult
2443n/aTzoulis et al, 2006;

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385W748S5
E1143G
A467T2
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver failure
-liver dysfunction
-headache/ migraine
childhood
10n/a10Tzoulis et al, 2006;

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386W748S5
E1143G
A467T2
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver failure
-liver dysfunction
-headache/ migraine
-nystagmus
juvenile
19n/a19Tzoulis et al, 2006;

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387W748S5
E1143G
A467T2
Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44
-myoclonic seizures
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
adult
3650n/aTzoulis et al, 2006;

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388W748S5
E1143G
A467T2
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-liver dysfunction
-headache/ migraine
-nystagmus
juvenile
15n/a21Tzoulis et al, 2006;

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389W748S5
E1143G
A467T2
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
juvenile
14n/a23Tzoulis et al, 2006;

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402A467T2
W748S5
K561M2
Feeding difficulties 2 days after birth and trunk hypotonia, dysmorphy, hypotonia, coloboma, heart failure at 2 months, liver insufficiency at 4 months. Liver and muscle mtDNA depletion.
-liver failure
-hypotonic
infantile
0.001n/a0.5Sarzi et al, 2007;

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412A467T2
W748S5
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,
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-ptosis
-PEO
-diplopia
-headache/ migraine
-dysarthria
adult
2839n/aPaus et al, 2008;

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413A467T2
W748S5
E1143G
Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy
-movement disorder (ataxia)
-ptosis
-PEO
-dysarthria
adult
3637n/aPaus et al, 2008;

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439W748S5
A467T2
R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus.
-epilepsia partialis
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
juvenile
17n/an/aRouzier et al, 2013;

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455A467T2
W748S5
E1143G
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.
-movement disorder (ataxia)
-ophthalmoplegia
-dysarthria
adult
3747n/aPosada et al, 2010;

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456W748S5
A467T2
Focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory–motor axonal neuropathy, and impairment of visual perception and cognitive function.
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
-headache/ migraine
juvenile
1516n/aRoshal et al, 2011;

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459W748S5
A467T2
abnormal gait, ataxia, PEO, and jerky torticollis, mild cerebellar atrophy, sensory neuronopathy.
-movement disorder (ataxia)
-cerebellar atrophy
-PEO
adult
4345n/aTuladhar et al, 2013;

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468W748S5
A467T2
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
3658n/aTzoulis et al, 2013;

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469W748S5
A467T2
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
2450n/aTzoulis et al, 2013;

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505W748S5
A467T2
Ataxia, ptosis, pareses, diabetes, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
-movement disorder (ataxia)
-demyelinating neuropathy
-ptosis
adult
4956n/aHanisch et al, 2014;

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506W748S5
A467T2
Ataxia, ptosis, mild cognitive impairment, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
-movement disorder (ataxia)
-demyelinating neuropathy
-ptosis
adult
4145n/aHanisch et al, 2014;

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516W748S5
A467T2
Ataxia, Epilepsy, Dementia, Encephalopathy, Myoclonus, Fatigue, Depression, Dysarthria, Cardiac failure, cardiomyopathy, Diabetes, arPEO, Ischemic heart disease.
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-myopathy
-PEO
-encephalopathy
-dementia
-dysarthria
adult
2024n/aLax et al, 2012b;

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537W748S5
A467T2
Ataxia, neuropathy, PEO, MIRAS.
-movement disorder (ataxia)
-PEO
adult
n/a39n/aSitarz et al, 2014;

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539A467T2
W748S5
E1143G
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.
-status epilepticus
-myoclonic seizures
-intractable seizure
-movement disorder (ataxia)
-ragged red fibers
-dementia
-cortical blindness
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
51314Kollberg et al, 2006;

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555W748S5
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
14n/a23Tzoulis et al, 2014;

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556W748S5
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
13n/a21Tzoulis et al, 2014;

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616W748S5
E1143G
A467T2
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.
-movement disorder (ataxia)
-PEO
-dysarthria
-areflexia
-tremor
childhood
1252n/aVan Goethem et al, 2004;

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627Q497H2
W748S5
E1143G
A467T2
Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay
-movement disorder (ataxia)
-developmental delay
-dementia
-hearing loss
juvenile
17n/an/aWong et al, 2008;

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674W748S5
E1143G
A467T2
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.
-status epilepticus
-focal seizures
-movement disorder (ataxia)
-polyneuropathy
-headache/ migraine
-areflexia
juvenile
172023Janssen et al, 2016;

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676W748S5
A467T2
She had occipital lobe and secondarily generalized seizures. In addition, she had PEO, truncal and appendicular ataxia and peripheral neuropathy with diminished vibration sense and areflexia. She reported sporadic occurrence of seizures with a frequency of once in every few months.
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-areflexia
adult
2147n/aJanssen et al, 2016;

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677W748S5
E1143G
A467T2
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.
-status epilepticus
-movement disorder (ataxia)
-polyneuropathy
-axonal sensorimotor polyneuropathy
juvenile
1818.7n/aJanssen et al, 2016;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 44
Avg age of onset in displayed cases: 25.3
Std dev in onset in displayed cases: 12.3

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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