A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome

Mutations in the mitochondrial DNA cytochrome b gene (MTCYB) have been commonly associated with isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders, and only once with a parkinsonism/mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (ME...

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Autores principales: Emmanuele, Valentina, Sotiriou, Evangelia, Gutierrez Rios, Purificación, Ganesh, Jaya, Ichord, Rebecca, Foley, A. Reghan, Akman, H. Orhan, DiMauro, Salvatore
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3973035/
https://ncbi.nlm.nih.gov/pubmed/22638077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812445787
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