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Ann Neurol. 2003 Oct;54(4):527-30.

Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.

Author information

1
Departamento de Bioquímica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.

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.

PMID:
14520668
DOI:
10.1002/ana.10682
[Indexed for MEDLINE]

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