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특이 전기생리결과를 보인 X연관샤르코-마리-투스병1형

Other Titles
 X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features 
Authors
 박형준  ;  신하영  ;  이효은  ;  이동현  ;  김경민  ;  최병옥  ;  김승민 
Citation
 Journal of the Korean Neurological Association, Vol.32(2) : 108-112, 2014 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2014
Abstract
Charcot-Marie-Tooth X type 1 (CMTX1) is caused by mutations in the connexin 32 gene (Cx32) on the X chromosome. Electrophysiologically, CMTX1 is usually associated with intermediate slowing of conduction velocities and severe impairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporal dispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first time in Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings. Key Words: Charcot-Marie-Tooth disease, Connexin 32 (Cx32), Nerve conduction study
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
박형준(Park, Hyung Jun)
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이효은(Lee, Hyo Eun)
최병옥(Choi, Byung Ok)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/98931
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