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심부정맥, 주기성마비 및 KCNJ2유전자 돌연변이를 가진 안데르센 증후군 2가계

Other Titles
 Two Families of Andersen’s Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations 
Authors
 서범천  ;  최병옥  ;  정기화  ;  김승민  ;  정연경  ;  김상범  ;  선우일남 
Citation
 Journal of the Korean Neurological Association, Vol.24(3) : 265-269, 2006 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2006
Keywords
Andersen‘s syndrome ; Periodic paralysis ; Exercise test
Abstract
Andersen's syndrome is a rare autosomal dominant disorder characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is known to be a type of potassium channelopathies with a mutation in the KCNJ2 (Kir2.1) gene. Here, we present two families with genetically confirmed Andersen’s syndrome through clinical and electrophysiological findings. They showed all features of the triad, and one of them had a novel mutation c.307G>A (Met307Ile).
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
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/22282913/109609
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