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Merosin 결핍 선천성근이영양증 1예

Other Titles
 Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis 
Authors
 채경민  ;  강성웅  ;  최영철  ;  김태승 
Citation
 Journal of the Korean Neurological Association, Vol.22(6) : 680-682, 2004 
Journal Title
Journal of the Korean Neurological Association
ISSN
 1225-7044 
Issue Date
2004
Keywords
Merosin-deficient congenital muscular dystrophy ; Laminin α2
Abstract
Primary merosin (laminin α2 chain)-deficient congenital muscular dystrophy (CMD) is a uncommon and severe form of CMD, which is caused by the mutations in the laminin α2 chain gene. It is an autosomal recessively inherited form of muscular dystrophy that is associated with severe neonatal hypotonia, a high serum creatine kinase level, and abnormal brain imaging without intellectual dysfunction. We report a case of merosin-deficient CMD confirmed by the immunocytochemical analysis of the frozen muscle biopsy. This is the first case of merosin-deficient CMD in Korea.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seong Woong(강성웅) ORCID logo https://orcid.org/0000-0002-7279-3893
Kim, Tai Seung(김태승)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112509
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