Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan

Mutations in small heat shock protein beta‐1 (HspB1) have been linked to Charcot‐Marie‐Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted...

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Détails bibliographiques
Publié dans:J Peripher Nerv Syst
Auteurs principaux: Tanabe, Hajime, Higuchi, Yujiro, Yuan, Jun‐Hui, Hashiguchi, Akihiro, Yoshimura, Akiko, Ishihara, Satoshi, Nozuma, Satoshi, Okamoto, Yuji, Matsuura, Eiji, Ishiura, Hiroyuki, Mitsui, Jun, Takashima, Ryotaro, Kokubun, Norito, Maeda, Kengo, Asano, Yuri, Sunami, Yoko, Kono, Yu, Ishigaki, Yasunori, Yanamoto, Shosaburo, Fukae, Jiro, Kida, Hiroshi, Morita, Mitsuya, Tsuji, Shoji, Takashima, Hiroshi
Format: Artigo
Langue:Inglês
Publié: Wiley Periodicals, Inc. 2018
Sujets:
Research Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5873406/
https://ncbi.nlm.nih.gov/pubmed/29381233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jns.12252
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