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

Other Titles
 A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient 
Authors
 최병옥  ;  정기화  ;  선우일남  ;  이지용  ;  신상희  ;  이미선  ;  박기덕  ;  김승민 
Citation
 Journal of the Korean Neurological Association, Vol.22(1) : 80-83, 2004 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2004
Keywords
Charcot-Marie-Tooth disease ; Cx32 ; EGR2 ; Mutation
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 and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.
Files in This Item:
T200403422.pdf Download
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Sunwoo, Il Nam(선우일남)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112823
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