A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children

Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial ND mutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes dystonia with or without familial Leber heredit...

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Detalhes bibliográficos
Publicado no:Child Neurol Open
Main Authors: Kurt, Yasemin Gulcan, Çoku, Jorida, Akman, H. Orhan, Naini, Ali, Lu, Jesheng, Engelstad, Kristin, Hirano, Michio, De Vivo, Darryl C., DiMauro, Salvatore
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2016
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5417276/
https://ncbi.nlm.nih.gov/pubmed/28503604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X15627937
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