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X-linked Charcot-Marie-Tooth 환자에서 새로이 발견된 connexin32 유전자의 missense 돌연변이 Cys168Arg

Other Titles
 X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene 
Authors
 최병옥  ;  선우일남  ;  정기화  ;  황정희  ;  이미선  ;  최경규  ;  김용재  ;  박기덕 
Citation
 Journal of the Korean Neurological Association, Vol.22(1) : 76-79, 2004 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2004
Keywords
X-linked Charcot-Marie-Tooth (CMTX) ; Connexin 32 ; Missense mutation
Abstract
X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Sunwoo, Il Nam(선우일남)
Choi, Byung Ok(최병옥)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112585
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