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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Detalles Bibliográficos
Autores principales: Kurt, Yasemin Gulcan, Çoku, Jorida, Akman, H. Orhan, Naini, Ali, Lu, Jesheng, Engelstad, Kristin, Hirano, Michio, De Vivo, Darryl C., DiMauro, Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417276/
https://www.ncbi.nlm.nih.gov/pubmed/28503604
http://dx.doi.org/10.1177/2329048X15627937

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