Ontology highlight
ABSTRACT:
SUBMITTER: Tanabe H
PROVIDER: S-EPMC5873406 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Tanabe Hajime H Higuchi Yujiro Y Yuan Jun-Hui JH Hashiguchi Akihiro A Yoshimura Akiko A Ishihara Satoshi S Nozuma Satoshi S Okamoto Yuji Y Matsuura Eiji E Ishiura Hiroyuki H Mitsui Jun J Takashima Ryotaro R Kokubun Norito N Maeda Kengo K Asano Yuri Y Sunami Yoko Y Kono Yu Y Ishigaki Yasunori Y Yanamoto Shosaburo S Fukae Jiro J Kida Hiroshi H Morita Mitsuya M Tsuji Shoji S Takashima Hiroshi H
Journal of the peripheral nervous system : JPNS 20180214 1
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 microarray, targeted resequencing, and whole-exome sequencing. We identified HSPB1 var ...[more]