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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Veröffentlicht in:J Peripher Nerv Syst
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Wiley Periodicals, Inc. 2018
Schlagworte:
Research Reports
Online Zugang: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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