A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient

J Korean Neurol Assoc > Volume 22(1); 2004 > Article

Journal of the Korean Neurological Association 2004;22(1): 80-83.

Cx32 유전자에서 새로이 발견된 돌연변이 V136A와 EGR2 유전자 돌연변이 R359W를 보인 Charcot-Marie-Tooth 환자

최병옥, 정기화 김승민 박기덕 이미선 신상희 이지용 선우일남

이화여자대학교 의과대학 신경과학교실, 공주대학교 생명과학과*, 연세대학교 의과대학 신경과학교실†, 연세대학교 원주의과대학 신경과학교실‡

A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient

Byung Ok Choi

Department of Neurology, Ewha Womans University College of Medicine, Seoul; Department of Biological Science, Kongju National University*, Gongju; Department of Neurology, Yonsei University College of Medicine†, Seoul; Department of Neurology, Yonsei U

Abstract

Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother