Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four...

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Detalles Bibliográficos
Autores principales: Higuchi, Yujiro, Okunushi, Ryuta, Hara, Taichi, Hashiguchi, Akihiro, Yuan, Junhui, Yoshimura, Akiko, Murayama, Kei, Ohtake, Akira, Ando, Masahiro, Hiramatsu, Yu, Ishihara, Satoshi, Tanabe, Hajime, Okamoto, Yuji, Matsuura, Eiji, Ueda, Takehiro, Toda, Tatsushi, Yamashita, Sumimasa, Yamada, Kenichiro, Koide, Takashi, Yaguchi, Hiroaki, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Doi, Koichiro, Morishita, Shinichi, Sato, Ken, Nakagawa, Masanori, Yamaguchi, Masamitsu, Tsuji, Shoji, Takashima, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972596/
https://www.ncbi.nlm.nih.gov/pubmed/29718187
http://dx.doi.org/10.1093/brain/awy104

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