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 |
|