-
-
J Korean Neurol Assoc. 2004;22(1):80-83.
- 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
- 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‡
- 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
Keywords :
- 초록
-
