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7 patient data entries in database for clusters 1 and 1 in age group "childhood". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 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] | | 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] | | 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] | | 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] |
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: 7
Avg age of onset in displayed cases: 6.4
Std dev in onset in displayed cases: 2.3
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