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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Gepubliceerd in:J Peripher Nerv Syst
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Wiley Periodicals, Inc. 2018
Onderwerpen:
Research Reports
Online toegang: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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