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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Pubblicato in:Neurol Genet
Autori principali: Nishihara, Hideaki, Omoto, Masatoshi, Takao, Masaki, Higuchi, Yujiro, Koga, Michiaki, Kawai, Motoharu, Kawano, Hiroo, Ikeda, Eiji, Takashima, Hiroshi, Kanda, Takashi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5532748/
https://ncbi.nlm.nih.gov/pubmed/28804760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000171
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