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축삭형 신경병증 소견을 보이고 connexin32 유전자 변이가 확인된 Charcot-Marie-Tooth X환자

Other Titles
 Charcot-Marie-Tooth X Patient with an Axonal Neuropathy and a Connexin32 Gene Mutation 
Authors
 최윤정  ;  정기화  ;  최병옥  ;  선우일남  ;  김승민  ;  김원기  ;  박기덕 
Citation
 Journal of the Korean Association of EMG-Electrodiagnostic Medicine (대한근전도 전기진단의학회지), Vol.6(1) : 62-66, 2004 
Journal Title
 Journal of the Korean Association of EMG-Electrodiagnostic Medicine (대한근전도 전기진단의학회지) 
ISSN
 1229-6066 
Issue Date
2004
Keywords
CMTX ; Cx32 ; Neuropathy
Abstract
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically geterogeneous disorder of the perpheral nervous system. Mutations in the gap junction gene, connexine32 (Cx32), cause the X-linked from of Charcot-Marie-Tooth (CMTX) disease. Axonal loss, rather than demyelinating, is a prominent feature of the neuropathy in CMTX patient. However, There is still confusion as to whether CMTX is ptimatily an axonal neuropathy or a demyelinating one. We report a patient confirming a mutation in the Cx32 gene (Aeg164Gln) who had an axonal neuropathy
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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/22282913/112325
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