Article
Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE.
Journal of inherited metabolic disease - 1 Apr 2011
Mohamed Khalid, Fathallah Waseem, Ahmed Elamin
Abstract excerpt
INTRODUCTION: Alpers' syndrome is a progressive and often fatal cerebral and hepatic degeneration caused by a mutation in the polymerase gamma (POLG) gene involved in mitochondrial DNA replication. OBJECTIVE: We report on eight successive cases from five families. METHODS: Our analysis consisted of case series reports and literature search. RESULTS: The eight patients were from five extended families, all with...
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