Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 14520668.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. The mutation is heteroplasmic in all samples analyzed, and it fulfills all accepted criteria of pathogenicity. Transmitochondrial cell lines harboring 100% mutant mitochondrial DNA showed a marked decrease in the activity of complex I of the respiratory chain supporting the pathogenic role of T14487C.
Medical subject headings
- Corpus Striatum
- DNA, Mitochondrial
- Dystonia
- Point Mutation