Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene
- 7 July 2003
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 54 (4) , 527-530
- https://doi.org/10.1002/ana.10682
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.Keywords
Funding Information
- Diputacion General de Aragon (P032-2000)
- Spanish Minister of Health (FIS 00/0797)
- Spanish Network for Mitochondrial Disorders (G03-011)
- Mexican Government (CONACYT-121963)
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