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4 patient data entries in database for mutations G848S and A143V. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 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] | | 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] | | 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] |
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: 4
Avg age of onset in displayed cases: 13.5
Std dev in onset in displayed cases: 14.2
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