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1 patient data entry collated from reference Wiltshire et al, 2008.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
186R1047W3
T851A1
Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy.
-movement disorder (ataxia)
-peripheral neuropathy
-headache/ migraine
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/a1217

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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