シミズ　ユウコ   SHIMIZU Yuko   清水　優子    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
掲載誌名	正式名：Muscle & nerve 略　 称：Muscle Nerve ISSNコード：10974598/0148639X
掲載区分	国外
巻・号・頁	47(2),pp.283-6
著者・共著者	Iguchi Masahiro, Hashiguchi Akihiro, Ito Eiichi, Toda Kunio, Urano Mari, Shimizu Yuko, Takeuchi Chisen, Saito Kayoko, Takashima Hiroshi, Uchiyama Shinichiro
発行年月	2013/02
概要	INTRODUCTION:The distribution of documented cases of Charcot-Marie-Tooth disease type 4C (CMT4C) is mainly limited to the Mediterranean region. We report the first documented case of CMT4C in East Asia. Furthermore, we estimate the proportion of CMT4C in Japan and compare the same with that in European countries.CASE REPORT:A 72-year-old Japanese woman presented with early-onset motor and sensory neuropathy associated with scoliosis, deformities of the hands and feet, and carpal tunnel syndrome. A genetic screen detected a homozygous p.R529Q mutation in SH3TC2, the causative gene of CMT4C. The SH3TC2 mutation identified here is unique among 426 unrelated Japanese CMT patients, excluding those with CMT1A.CONCLUSIONS:Although CMT4C also occurs in Japan, it is less common than in European countries.
DOI	10.1002/mus.23540
PMID	23281072