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5 patient data entries collated from reference de Vries et al, 2007. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 13 | A467T2
| R227W4
| Onset at 4 months with FTT, dementia, hypotonia, seizures, myoclonus, GI problems, hepatopathy, hearing loss, delayed myelinisation. Death at 10 months | | | n/a | 0.3 | 0.8 | | 14 | D1184N1
| R227W4
| Severe childhood multi-system disorder- age of onset 4-7 months, age of death 26-43 months. Initial symptom was failure to thrive. Other symptoms included severe retardation, GI problems and hypotonia. Also hearing loss and elevated lactate in serum and CSF. Ragged red fibers were observed indicating mtDNA depletion | | | n/a | 0.5 | 2 | | 16 | A467T2
| R227P4
| Severe childhood multi-system disorder, epilepsy and failure to thrive, GI problems, hypotonia, retardation. | | | n/a | 0.5 | 1 | | 110 | A957P1
| A467T2
| Onset at 8 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 17 months. | | | n/a | 0.6 | 1.5 | | 111 | G848S1
| A467T2
| Onset at 6 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 15 months. | | | n/a | 0.5 | 1.3 |
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.
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