|
96 patient data entries in database for clusters 1 and 2. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 260 | A467T2
| G848S1
| Refractory seizures, psychomotor regression, liver disease, Transient hypoglycemia, Transient lactic academia, Elevated CSF protein, presented with epilepsia partialis continua, | | | 0.9 | n/a | 1.8 | Nguyen et al, 2005; [view data] | | 111 | G848S1
| A467T2
| Onset at 6 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 15 months. | | | 0.5 | n/a | 1.3 | de Vries et al, 2007; [view data] | | 112 | G848S1
| A467T2
| Alpers, seizures, developmental delay, liver failure, hypotonia, impaired vision, renal stones, mtDNA depletion in muscle. 5% COX deficient fibers. | | | 0.7 | n/a | n/a | Stewart et al, 2009; [view data] | | 127 | L1113P1
| A467T2
| Encephalopathy, seizures, pancreatitis, hepatic failure, elevated transaminases, respiratory deficiency/failure, lactic acidosis, mycoplasma infection, pentobarbital induced liver failure. 57% mtDNA copy number in muscle, 78% mtDNA copy number in blood, Complex IV 20%. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] | | 634 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 633 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, hypotonia, failure to thrive | | | 0.8 | n/a | n/a | Wong et al, 2008; [view data] | | 133 | R1128H1
| G517V2
| Onset at 1 years with microcephaly, developmental delay/ dementia, and liver dysfunction. Authors reported as undiagnosed. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 134 | D1196N1
| G517V2
| Onset at 1 years with myopathy, developmental delay/ dementia, RRF, and elevated CK. Authors reported as undiagnosed. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 345 | G848S1
| A467T2
| presented with hypoglycemia, lactic acidosis, moderate ketosis and liver dysfunction, generalized hypotonia, progressive jaundice and abdominal distension with ascites, status epilepticus with generalized tonico-clonic seizures. She had an intermittent tremor, moderate truncal ataxia with a wide-based gait, myoclonic seizures, epilepsia partialis continua, | | - | movement disorder (ataxia) | |
| | 0.29 | n/a | 5 | Scalais et al, 2012; [view data] | | 188 | A467T2
| R852C1
G11D
| reported as Alpers, onset at 2 years, presenting encephalopathy with epilepsy, hepatopathy. 22% mtDNA copy number in muscle. | | | 2.25 | n/a | n/a | Ashley et al, 2008; [view data] | | 198 | A467T2
| T914P1
| reported as Alpers, onset at 7 months, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 39% mtDNA copy number in muscle. | | - | movement disorder (ataxia) | |
| | 0.58 | n/a | n/a | Ashley et al, 2008; [view data] | | 200 | A467T2
| T914P1
| Epilepsy, myoclonus, and developmental delay. | | | n/a | 1 | n/a | Blok et al, 2009; [view data] | | 212 | A467T2
| A957P1
| Epilepsy, liver failure, occipital strokes, and growth retardation, death at age 1. | | | n/a | n/a | 1 | Blok et al, 2009; [view data] | | 631 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Cortical athrophy, hypoglycemia | | | 1.5 | n/a | n/a | Wong et al, 2008; [view data] | | 630 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Stroke | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 259 | A467T2
| G848S1
| Refractory seizures, psychomotor regression, liver disease, presented with liver failure | | | 1 | n/a | 1.3 | Nguyen et al, 2005; [view data] | | 110 | A957P1
| A467T2
| Onset at 8 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 17 months. | | | 0.6 | n/a | 1.5 | de Vries et al, 2007; [view data] | | 629 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Ataxia | | - | movement disorder (ataxia) | |
| | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 340 | C1188R1
| A467T2
| developmental delay, prolonged generalized seizure, hypotonia, epilepsia partialis continua, congestive heart failure, respiratory difficulty, autopsy showed enlarged and yellow liver, symmetrical but multifocal ischemic encephalopathy with laminar necrosis and neuronal degeneration in the cerebral cortex, Mitochondrial DNA copy number in blood was 43% of control values | | | 0.75 | n/a | 1.17 | Khan et al, 2012; [view data] | | 559 | G848S1
| A467T2
| Epilepsy, stroke-like episode. | | | 0.6 | n/a | 0.6 | Tzoulis et al, 2014; [view data] | | 542 | G848S1
| A467T2
| Ragged Red Fibers, COX-Deficient Fibers. The boy had feeding difficulties with failure to thrive since 3 months of age. Delayed motor development. general muscle weakness and ataxia. compromised liver function. | | - | movement disorder (ataxia) | |
| | 0.33 | n/a | 1.33 | Kollberg et al, 2006; [view data] | | 284 | K1191R1
| T251I
P587L2
| Presented with feeding difficulties and hypotonia, At 4.5 months of age the patient contracted an influenza A infection. Concurrently she experienced hepatomegaly associated with severe hypoglycemia, Abnormalities in liver synthetic function, elevations in liver hepatocellular enzymes, elevated cerebrospinal fluid (CSF) protein, severely reduced mtDNA (3%) in liver. liver failure. She showed signs of ongoing respiratory difficulty, pancreatitis, and renal tubulopathy | | | 0.166 | 0.416 | 0.458 | Lutz et al, 2009; [view data] | | 330 | C418R1
| A467T2
| presented in status epilepticus, with a 24 h history of lethargy and vomiting, ataxia diagnosed at 17 months, diffuse encephalopathy, | | - | movement disorder (ataxia) | |
| | 1.42 | n/a | 3.58 | McCoy et al, 2011; [view data] | | 329 | R852C1
| A467T2
| clonic seizures of the right arm and leg, Coma persisted and was accompanied by hypoglycaemia, tachycardia and oliguria, CSF proteinwas elevated, cortical blindness, anarthria and profound hypotonia, Liver dysfunction, prolonged focal seizures, acute encephalopathy, | | | 1.75 | n/a | 3.5 | McCoy et al, 2011; [view data] | | 318 | G848S1
| A467T2
| Myoclonic Seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | - | movement disorder (ataxia) | |
| | 0.5 | n/a | 3.33 | Hunter et al, 2011; [view data] | | 319 | G848S1
| A467T2
| Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Developmental Delay or Regression, hypotonia, tremor, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, death by liver failure, Alpers | | | 0.83 | n/a | 0.92 | Hunter et al, 2011; [view data] | | 321 | R852C1
| A467T2
| Myoclonic Seizures, visual disturbance, motor paresis, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Serum Lactate, liver mtDNA depletion, Alpers | | - | movement disorder (ataxia) | |
| | 1.33 | n/a | 5.08 | Hunter et al, 2011; [view data] | | 323 | L966R1
| A467T2
| Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, visual disturbance, Abnormal Liver Enzymes, liver mtDNA depletion, Alpers | | | 0.75 | n/a | 1.75 | Hunter et al, 2011; [view data] | | 324 | L966R1
| A467T2
| Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, motor paresis, tremor Abnormal Liver Enzymes, Alpers | | | 1.42 | n/a | 1.58 | Hunter et al, 2011; [view data] | | 327 | L966R1
| A467T2
| focal seizures, elevated blood lactate, elevated liver enzymes, Elevated CSF protein, severe lactic acidosis, severe encephalopathy, Death occurred ten days after admission | | | 1.42 | n/a | 1.42 | McCoy et al, 2011; [view data] | | 328 | G848S1
| A467T2
| focal seizures, elevated liver transaminases, Elevated CSF protein, patient died several weeks later | | | 0.8 | n/a | 1 | McCoy et al, 2011; [view data] | | 80 | G11D
R852C1
| A467T2
| Alpers, seizures, abnormal liver function, mild lactic acidosis, normal histology of COX fibers. | | | 1.25 | n/a | n/a | Stewart et al, 2009; [view data] | | 704 | A957P1
| A467T2
| mild motor retardation was first noted at 6 months. At the age of 16 months, he was admitted to a local hospital for status epilepticus. At 18 months, generalized brain atrophy. epilepsia partialis continua, which was partially controlled by carbamazepine, later switched to oxcarbazepine. Elevated blood lactate. Alpers. He died at 2 years of age after severe complications from liver failure. | | | 0.5 | n/a | 2 | Ferrari et al, 2005; [view data] | | 521 | G848S1
| A467T2
| Alpers, Epilepsy, developmental delay, COX deficient fibres. | | | 1 | n/a | n/a | Stewart et al, 2009; [view data] | | 702 | G848S1
| A467T2
| He developed normally in the first 6 months. Refusal of food and failure to thrive were noted from the 7th month of life. At 1 year of age, increased transaminase levels in the blood were accompanied by liver enlargement and hyperecogenicity. Motor development was delayed. hypoglycaemic episodes and lactic acidosis. A liver biopsy at the age of 16 months revealed steatosis and fibrosis. At 20 months of age, he had numerous episodes of status epilepticus and epilepsia partialis continua. The patient died at 2.5 years of age during an episode of status epilepticus. Alpers’ syndrome. | | | 0.5 | n/a | 2.5 | Ferrari et al, 2005; [view data] | | 689 | G848S1
| A467T2
| Hepatopathy, Epilepsy, Hepatopathy, | | | 1.5 | n/a | n/a | Ashley et al, 2008; [view data] | | 470 | G848S1
| A467T2
| Epilepsy, stroke-like episodes. | | | 0.6 | n/a | 0.6 | Tzoulis et al, 2013; [view data] | | 639 | G848S1
| T251I
P587L2
| Alpers | | | 0.5 | n/a | n/a | Wong et al, 2008; [view data] | | 29 | K1191R1
| T251I
P587L2
| Developmental delay/dementia, liver dysfunction, lactic acidosis, fatigue, pancreatitis, cyclic vomiting. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 638 | T914P1
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 31 | E1136K1
| T251I
P587L2
| Vomiting, FTT, hypotonic, lactic acidemia, hypoglycemia, bilateral dense cataracts, hepatomegaly, jaundice, septicemia. infantile hepatocerebral mtDNA depletion. Mother with E1136K allele reported as asymptomatic. Father with T251I/P587L allele reported as asymptomatic. | | | 0.01 | n/a | 0.5 | Taanman et al, 2009; [view data] | | 447 | G848S1
| A467T2
| Alpers, status epilepticus and somnolence, ataxia with dysmetria and muscular hypotonia. Healthy unrelated parents. Laboratory investigations revealed myoclonic epilepsy with ragged red fibers, | | - | movement disorder (ataxia) | |
| | 2.2 | 3.5 | 5.5 | Hasselmann et al, 2010; [view data] | | 49 | R853Q1
| T251I
P587L2
| Developmental delay, dementia, lactic acidosis, microcephaly, FTT, hearing loss, abnormal MRI. | | | n/a | 0.2 | n/a | Wong et al, 2008; [view data] | | 72 | A467T2
| R417T1
| onset at 2 years with encephalopathy no hepatopathy. | | | 2 | n/a | n/a | Ashley et al, 2008; [view data] | | 445 | T914P1
| A467T2
| myoclonic status epilepticus, myoclonic seizures at 8 months, developmental regression, febrile upper respiratory tract infection, nearly continuous myoclonic jerks, normocephalic, nondysmorphic, diffuse hypotonia, died secondary to complications of hepatic failure. | | | 0.8 | n/a | 1 | Dhamija et al, 2011; [view data] | | 75 | A467T2
| L428P1
| Alpers, cerebellar ataxia at age 2, seizures at age 3, RC deficiency in liver, hepatocellular insufficiency after valproate treatment at age 3.6, death at age 3.8. 8% mtDNA copy number in liver. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 3.8 | Sarzi et al, 2007; [view data] | | 96 | L886P1
| A467T2
| Onset 1 years with dementia, seizures, and liver failure. Alpers | | | 1 | 1 | n/a | Wong et al, 2008; [view data] | | 97 | T914P1
| A467T2
| Developmental delay, hypotonia, seizures, myoclonic seizures, hemiparesis, intractable seizure, elevated transaminases, FTT, lactic acidosis, high CSF lactate, elevated pyruvate, high CSF protein, dementia/encephalopathy. 112% mtDNA copy number in muscle, 63% mtDNA copy number in blood. | | | n/a | 0.9 | n/a | Tang et al, 2011; [view data] | | 98 | T914P1
| A467T2
| Onset 2 years with dementia, seizures, and liver failure. Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 99 | T914P1
| A467T2
| Onset at 9 months with alpers, death at 12 months. 8% mtDNA copy number in liver, 8% mtDNA copy number in muscle. | | | 0.8 | n/a | 1 | Taanman et al, 2009; [view data] | | 100 | T914P1
| A467T2
| Developmental delay, seizures, myoclonic seizures, intractable seizure, respiratory deficiency/failure, abnormal EEG, abnormal MRI. 60% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 102 | T914P1
| A467T2
| Seizures, hepatic failure, duplicated cyst of ileum, FTT, diarrhea. 13% mtDNA copy number in liver. | | | n/a | 4 | n/a | Tang et al, 2011; [view data] | | 529 | G848S1
| A467T2
| mtDNA depletion. severe hypoglycemia, liver biopsy shows micronodular cirrhosis. At 3 y 9 m, status epilepticus develops which occurs again at 4 y and is difficult to control. myoclonia. She dies from bronchopulmonary infection when 5 y old. COX negative fibers. | | | 0.25 | 4 | 5 | Roels et al, 2009; [view data] | | 105 | T914P1
| A467T2
| Onset at 1.5 years with encephalopathy and hepatopathy and cortical blindness. Diagnosed as Alpers. | | | 1.5 | 2 | n/a | Horvath et al, 2006; [view data] | | 408 | G848S1
| A467T2
| Delayed motor and mental development, From the age of 3 years his psychomotor development declined and epilepsy, visual impairment and sensorineuronal deafness, epilepsia partialis continua. Bilateral ptosis, generalized hypotonia, ataxia, absent reflexes and hyperlaxity by age 5. | | - | movement disorder (ataxia) | |
| | 3 | 5 | n/a | de Vries et al, 2008; [view data] | | 108 | K1191N1
| A467T2
| Onset at .5 years with encephalopathy, liver dysfunction, cardiopathy, diagnosed as Alpers, death at 1.3 years. | | | 0.5 | n/a | 1.3 | Horvath et al, 2006; [view data] | | 109 | R852C1
G11D
| A467T2
| Seizures, myoclonic seizures, intractable seizures, hepatic failure, elevated transaminases, Apnes/Hypoventilation, respiratory deficiency/failure, lactic acidosis, organic aciduria/tiglyglycine, low plasma carnitine, abnormal EEG. 108% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 632 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Stroke, ataxia, exercise intolerance | | - | movement disorder (ataxia) | |
| | 9 | n/a | n/a | Wong et al, 2008; [view data] | | 422 | D1184N1
| T251I
P587L2
| Peripheral neuropathy, PEO, fatty liver | | | 9 | n/a | 30 | Amiot et al, 2009; [view data] | | 421 | D1184N1
| T251I
P587L2
| Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver | | - | movement disorder (ataxia) | |
| | 9 | n/a | 33 | Amiot et al, 2009; [view data] | | 351 | T851A1
| N468D2
| CPEO, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastrointestinal symptoms, severe diarrhoea alternating with constipation, | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Woodbridge et al, 2012; [view data] | | 536 | S1104F1
| A467T2
| Epilepsy, Ataxia, Myopathy. | | - | movement disorder (ataxia) | |
| | n/a | 5 | n/a | Sitarz et al, 2014; [view data] | | 311 | G848S1
| A467T2
| Cyclic vomiting, episodic hypoglycemia then seizure onset at 6 years, generalized seizures, GI dysmotility, eyelid ptosis,ophthalmoplegia, sensorineural hearning loss, absent smooth pursuit eye movements | | | 6 | 11 | n/a | Saneto et al, 2010; [view data] | | 107 | C1188R1
| A467T2
| Developmental delay, seizures, abnormal MRI, hypotonia, low in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] | | 106 | L966R1
| A467T2
| Reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy. | | | 4 | n/a | n/a | Ashley et al, 2008; [view data] | | 104 | T914P1
| A467T2
| Onset at 4 years with encephalopathy, myoclonus, and SLE. | | | 4 | 8 | n/a | Horvath et al, 2006; [view data] | | 103 | T914P1
| A467T2
| Developmental delay, headaches/migraines, seizures, hemiparesis, intractable seizure, high CSF lactate, high CSF protein, hearing loss, abnormal EEG, increased signal basal ganglia, abnormal MRI. 88% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 101 | T914P1
| A467T2
| Developmental delay, hypotonia, dementia/encephalopathy, seizures, intractable seizure, lactic acidosis, high CSF lactate, abnormal MRI, no liver problem at 3.5 years. 24% mtDNA copy number in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] | | 73 | A467T2
| C418R1
| Onset at 3 years of age, encephalopathy presenting with epilepsy and movement disorder (ataxia). | | - | movement disorder (ataxia) | |
| | 3 | n/a | n/a | Ashley et al, 2008; [view data] | | 48 | N1157S1
| T251I
P587L2
| N/A (as reported in Tang 2011 JMG) | | | n/a | 9 | n/a | Tang et al, 2011; [view data] | | 688 | T914P1
| A467T2
| Hepatopathy | | | 15 | n/a | n/a | Ashley et al, 2008; [view data] | | 24 | N864S1
| T251I
P587L2
| MNGIE-like, presented with GI symptoms, ptosis, neuropathy, muscle weakness. | | | 15 | n/a | n/a | Van Goethem et al, 2003c; [view data] | | 604 | G848S1
| T251I
P587L2
| PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle. | | | n/a | n/a | n/a | Lamantea et al, 2002; [view data] | | 9 | A467T2
| A143V1
| Dementia/encephalopathy, headaches/migraines, ataxia, seizures, peripheral neuropathy, exercise intolerance, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, hearing loss, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Tang et al, 2011; [view data] | | 524 | G517V2
| Y955C1
| Peripheral neuropathy, myopathy, ptosis, CPEO, COX deficiency, ragged red fibres | | | n/a | 47 | n/a | Tang et al, 2011; [view data] | | 503 | R869Q1
| P587L2
T251I
| Pareses, ptosis, ataxia, sensory neoropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 29 | 34 | n/a | Hanisch et al, 2014; [view data] | | 227 | A467T2
| S1104C1
| PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA. | | | 48 | n/a | n/a | Agostino et al, 2003; [view data] | | 4 | A467T2
| F88L1
| Clinical indications reported as N/A only information provided is age of patient and 71% mtDNA copy number in blood. | | | n/a | 42 | n/a | Tang et al, 2011; [view data] | | 25 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, exercise intolerance, muscle cramps after exercise, easy fatigability, arrythmia, CPEO, abnormal EMG/NCV, ptosis, cataract, abnormal muscle histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 123% mtDNA copy number in blood. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 31 | n/a | Tang et al, 2011; [view data] | | 26 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, ptosis, muscle weakness, CPK abnormalities. 77% mtDNA copy number in blood. | | | n/a | 41 | n/a | Tang et al, 2011; [view data] | | 27 | G848S1
| T251I
P587L2
| Ocular bulbar weakness, peripheral neuropathy, muscle weakness, CPEO, ptosis, hypothyroidism, abnormal muscle histology, abnormal muscle ultrastructure, large mitochondrial proliferation, ragged red fibers. 96% mtDNA copy number in blood. Patient II-44. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 81 | n/a | Tang et al, 2011; [view data] | | 28 | K1191N1
| T251I
P587L2
| Stroke/ischaemic episodes, peripheral neuropathy, CPEO, abnormal EMG/NCV, ptosis, muscle weakness, headache/migraine. 167% mtDNA copy number in blood. | | | n/a | 39 | n/a | Tang et al, 2011; [view data] | | 30 | V1106I1
| T251I
P587L2
| PEO with myopathy | | | n/a | 35 | n/a | Horvath et al, 2006; [view data] | | 128 | R1138C1
| A467T2
| Onset 48 years with neuropathy, myopathy, SANDO, lactic acidosis PEO. | | | 48 | n/a | n/a | Wong et al, 2008; [view data] | | 131 | D1184N1
| N468D2
| PEO and tetraparesis, serum CK level elevated. | | | 32 | n/a | n/a | Gonzalez-Vioque et al, 2006; [view data] | | 136 | A889T1
| R579W2
| Onset at age 30 with ptosis, later development of ataxia orthostatic dizziness, cataracts, GI dysmotility with diarrhea and constipation. | | - | movement disorder (ataxia) | |
| | 30 | n/a | n/a | Filosto et al, 2003; [view data] | | 484 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, general fatigue, muscle weakness, periodic depression, parkinsons, premature menopause. | | | 32 | 50 | n/a | Luoma et al, 2004; [view data] | | 250 | G848S1
| T251I
P587L2
| PEO, severe ophthalmoplegia and ptosis, which appeared insidiously and had been present clinically since the age of 55. Muscle biopsy at age 68 revealed mitochondrial myopathy, as well as muscle inflammation with granulomas. multiple mtDNA deletions in muscle tissue. | | | 55 | 75 | n/a | Kollberg et al, 2005; [view data] | | 276 | R1138C1
| A467T2
| Bilateral ptosis, distal lower limbs paresthesias, dysphagia, imbalance, inattention, ophthalmoparesis, Multiple mtDNA deletions detected by PCR in blood and muscle | | | 46 | 54 | n/a | Milone et al, 2011; [view data] | | 313 | G848S1
| T251I
P587L2
| progressively droopy eyelids, double vision, gait instability, proximal arm weakness, ragged red and ragged blue (succinate dehydrogenase–positive) fibers in about 3% and 6% of all muscle fibers, bilateral ptosis, diplopia, dysarthria, myopathy involving the facial muscles, sensory ataxic polyneuropathy | | | n/a | 80 | n/a | Weiss and Saneto, 2010; [view data] | | 419 | M919T1
| A467T2
| Peripheral neuropathy, PEO, ataxia | | - | movement disorder (ataxia) | |
| | 23 | 41 | n/a | Amiot et al, 2009; [view data] | | 482 | N468D2
| A1105T1
| Ptosis, PEO, Cataracts, sensory axonal neuropathy, moderate motor neuropathy, rigidity, bradykinesia, resting tremor, Parkinsons, muscle weakness. | | - | demyelinating neuropathy | |
| | 30 | 49 | 51 | Luoma et al, 2004; [view data] | | 483 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, Excercise intolerance, muscle pain, sensory axonal neuropathy, Parkinsons | | - | demyelinating neuropathy | |
| | 21 | 40 | n/a | Luoma et al, 2004; [view data] | | 264 | R852C1
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] | | 265 | T914P1
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] | | 266 | L966R1
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] |
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: 96
Avg age of onset in displayed cases: 11.4
Std dev in onset in displayed cases: 18.5
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