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20 patient data entries in database for clusters 1 and 1. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 523 | A957V1
| I1185T1
| Myocerebrohepatopathy spectrum (MCHS) disorder. Poor sucking and failure to thrive since, frequent vomiting, developmental regression, developmental delay, emesis, poor weight gain, lethargy. Hypotonia and hepatomegaly. Laboratory tests showed hepatocellular dysfunction and elevated protein and lactate levels in the cerebrospinal fluid. mtDNA depletion. Proximal dominant muscular weakness. All deep tendon reflexes were weak. Myoclonic jerks of the right and left arms were infrequently observed. She died of multiple organ failure caused by hepatic failure at 8 months of age. | | | 0.333 | 0.5 | 0.666 | Montassir et al, 2014; [view data] | | 203 | A957V1
| S933R1
| Developmental delay, hypotonia, seizures, muscle weakness elevated transaminases, respiratory deficiency, lactic acidosis, high CSF lactate, elevate pyruvate, high CSF protein, abnormal EEG, abnormal MRI, FTT, hypoglycemia. 37% mtDNA copy number in muscle, 41% mtDNA copy number in blood. | | | n/a | 0.3 | n/a | Tang et al, 2011; [view data] | | 5 | G848S1
| A143V1
| Evidence of maternal inheritance, developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, hepatic failure, elevated transaminases, high CSF lactate, abnormal EEG, leukodystrophy, MRS/lactate peak, abnormal MRI. 71% mtDNA copy number in blood. | | | n/a | 4 | n/a | Tang et al, 2011; [view data] | | 7 | G848S1
| A143V1
| Seizures, intractable seizure, abnormal EEG, abnormal MRI. 43% mtDNA copy number in blood. | | | n/a | 8 | n/a | Tang et al, 2011; [view data] | | 8 | G848S1
| A143V1
| Leigh disease, developmental delay, FTT, abnormal EEG/MRI, hypotonia, seizures, vomiting, hemiplegia, behavior change. 136% mtDNA copy number in muscle and 57% mtDNA copy number in blood. | | | n/a | 4 | n/a | Tang et al, 2011; [view data] | | 407 | G888S1
| L83P1
| Slightly elevated hearing threshold, poor school performance, multifocal partial seizures at age 9. The seizures usually generalized and progressed to status epilepticus. Valproic acid was used for 2 and half months and then was terminated due to acute liver failure. She developed edema and coagulopathy 52 days after starting valproic acid treatment, 3 weeks later developed jaundice and hepatomegaly. Valproic acid stopped, liver function returned to normal after 6 months. After 7 months developed visual loss, axonal peripheral sensory neuropathy | | | 9 | 10 | n/a | Bao et al, 2008; [view data] | | 185 | G848S1
| G848S1
| Seizures, SIDS/unexplained death, MRS/lactate peak, abnormal MRI, abnormal respiratory enzymes. 7% mtDNA copy number in muscle. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 192 | R964C1
| A862T1
| Progressively focal motor and tonic-clonic seizures, delayed psychomotor development, sensoriaxonal neuropathy, mild tetraparesis, cerebellar syndrome, intestinal pseudoobstruction, died via refractory status epilepticus. | | - | demyelinating neuropathy | |
| | 5 | n/a | 23 | Stricker et al, 2009; [view data] | | 3 | G888S1
| L83P1
| Alpers is reported as diagnosis. Symptoms are cortical blindness, dementia, seizures, hepatopathy and hearing loss. | | | 10 | n/a | n/a | Wong et al, 2008; [view data] | | 193 | R964C1
| A862T1
| Progressive cerebellar ataxia, neuropathy, restless legs syndrome, hemihypesthia, myoclonic epileptic seizures, severe ataxia, dysphagia, muscle strength preserved, migraines, headaches, abdominal pain, death via prolonged status epilepticus. | | - | movement disorder (ataxia) | |
| | 15 | n/a | 27 | Stricker et al, 2009; [view data] | | 216 | R964C1
| A962T1
| Ataxia, muscle weakness, central hypoventilation. 119% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 14 | n/a | Tang et al, 2011; [view data] | | 191 | R964C1
| A862T1
| Onset 17 years with ataxia, exercise intolerance, cerbellar atrophy, SCAE, seizures, dementia. | | - | movement disorder (ataxia) | |
| | 17 | n/a | n/a | Wong et al, 2008; [view data] | | 77 | W918R1
| M430L1
| Onset at 32 years with ptosis, PEO. | | | 32 | n/a | n/a | Ferreira et al, 2011; [view data] | | 337 | R953C1
| R953C1
| gait abnormalities and PEO, cognitive impairment and depressive and psychotic symptoms, masked face, bradykinesia, action tremor, stooped posture, rigidity, complete ophthalmoplegia, and mild proximal limb weakness, sensory polyneuropathy, myopathy, mild cardiomyopathy, Multiple mtDNA deletions in muscle | | | 20 | 35 | n/a | Gurgel-Giannetti et al, 2012; [view data] | | 406 | R964C1
| R964C1
| 34-year-old HIV-1–infected Thai woman who had been asymptomatic until the development of Pneumocystis jiroveci pneumonia. She had suffered from severe lactic acidosis after 1 year of use of d4T and lamivudine (3TC). Her peak lactate level was 67 mg/dL, and paresthesia was still present in both legs after 15 years of cessation of d4T treatment. Severe lactic acidosis induced by 1 year of treatment with d4T. | | | n/a | 34 | n/a | Yamanaka et al, 2007; [view data] | | 76 | W918R1
| M430L1
| PEO, muscle weakness, and later onset levodopa-responsive pseudo-orthostatic tremor with Parkinsonism. | | | 30 | n/a | n/a | Invernizzi et al, 2008; [view data] | | 517 | S1104C1
| G848S1
| Ataxia, Dementia, Peripheral neuropathy, Areflexia, Myopathy, fatigue, depression, Ophthalmoplegia, Dysarthria, Osteoporosis, arPEO. | | - | movement disorder (ataxia) | |
| | 22 | 59 | n/a | Lax et al, 2012b; [view data] | | 6 | G848S1
| A143V1
| Ataxia, peripheral neuropathy, hearing loss, abnormal MRI, COX deficiency, developmental delay, seizure, delayed gastric emptying, CPK abnormalities, sister died at 2.5 years. 111% mtDNA copy number in blood. Patient II-49. | | - | movement disorder (ataxia) | |
| - | delayed gastric emptying | |
| | n/a | 38 | n/a | Tang et al, 2011; [view data] | | 574 | G848S1
| S1104C1
| The patient first presented at the age of 22 years with left-sided ptosis, which slowly progressed over the next 20 years to an almost complete ophthalmoplegia. He developed proximal muscle weakness at age 50 and his first Parkinsonian features at age 51. rigidity, tremor, bradykinesia and difficulty performing fine motor tasks. Proximal myopathy. sensorimotor neuropathy. Dysphagia. | | | 22 | 57 | 59 | Betts-Henderson et al, 2009; [view data] | | 609 | G923D1
| G923D1
| adPEO. | | | n/a | 32 | n/a | Lamantea et al, 2002; [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: 20
Avg age of onset in displayed cases: 16.1
Std dev in onset in displayed cases: 11.8
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