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1 patient data entry collated from reference Wiltshire et al, 2008. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 186 | R1047W3
| T851A1
| Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy. | | - | movement disorder (ataxia) | |
| | n/a | 12 | 17 |
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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