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

doi:10.1111/jns.12252

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Article

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

Journal of the peripheral nervous system : JPNS - 1 Mar 2018

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

Abstract excerpt

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 gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA...

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PMID: 29381233
DOI: 10.1111/jns.12252
PMCID: PMC5873406

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HSPB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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