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Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction

OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was...

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Detalles Bibliográficos
Autores principales:	Nishihara, Hideaki, Omoto, Masatoshi, Takao, Masaki, Higuchi, Yujiro, Koga, Michiaki, Kawai, Motoharu, Kawano, Hiroo, Ikeda, Eiji, Takashima, Hiroshi, Kanda, Takashi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532748/ https://www.ncbi.nlm.nih.gov/pubmed/28804760 http://dx.doi.org/10.1212/NXG.0000000000000171

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