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

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dc.contributor.author Solano, Abelardo
dc.contributor.author Roig, Manuel
dc.contributor.author Vives-Bauzà, Cristòfol
dc.contributor.author Hernandez Peña, José
dc.contributor.author García Arumi, Elena
dc.contributor.author Playan, Ana
dc.contributor.author López Pérez, Manuel J.
dc.contributor.author Andreu, Antonio L.
dc.contributor.author Montoya, Julio
dc.date.accessioned 2019-01-18T11:15:26Z
dc.date.available 2019-01-18T11:15:26Z
dc.identifier.uri http://hdl.handle.net/11201/148810
dc.description.abstract [eng] 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.
dc.format application/pdf
dc.relation.isformatof https://doi.org/10.1002/ana.10682
dc.relation.ispartof Annals of Neurology, 2003, vol. 54, num. 4, p. 527-530
dc.rights , 2003
dc.subject.classification 57 - Biologia
dc.subject.other 57 - Biological sciences in general
dc.title Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.
dc.type info:eu-repo/semantics/article
dc.date.updated 2019-01-18T11:15:26Z
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.identifier.doi https://doi.org/10.1002/ana.10682


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