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베들렘 근병증 1가계

Other Titles
 A Family of Bethlem Myopathy 
Authors
 서범천  ;  최영철  ;  김승민  ;  최병옥  ;  심동석  ;  이동현  ;  선우일남 
Citation
 Journal of the Korean Neurological Association, Vol.24(6) : 614-617, 2006 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2006
Keywords
Bethlem myopathy ; Collagen VI ; Immunohistochemical stain
Abstract
Bethlem myopathy (BM) is an early-onset benign autosomal dominant myopathy characterized by proximal muscle weakness and multiple contractures. It is caused by mutations in the three genes encoding collagen VI, which is a ubiquitous extracellular matrix protein forming a microfibrillar network in close association with the basement membrane. Here, we present a family with BM which is the first reported Korean case.
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)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/110293
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