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  • Title: Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.
    Author: Solano A, Roig M, Vives-Bauza C, Hernandez-Peña J, Garcia-Arumi E, Playan A, Lopez-Perez MJ, Andreu AL, Montoya J.
    Journal: Ann Neurol; 2003 Oct; 54(4):527-30. PubMed ID: 14520668.
    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.
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