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Congenital muscular dystrophy type 1A with residual merosin expression

Authors
 Hyo Jeong Kim  ;  Young-Chul Choi  ;  Hyung Jun Park  ;  Young-Mock Lee  ;  Heung Dong Kim  ;  Joon Soo Lee  ;  Hoon Chul Kang 
Citation
 Korean Journal of Pediatrics, Vol.57(3) : 149-152, 2014 
Journal Title
Korean Journal of Pediatrics
ISSN
 1738-1061 
Issue Date
2014
Keywords
Immunohistochemistry ; Laminin alpha2 ; Merosin-deficient congenital muscular dystrophy
Abstract
Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin α2 (LAMA2 ) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)- deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.
Files in This Item:
T201403227.pdf Download
DOI
10.3345/kjp.2014.57.3.149
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Park, Hyung Jun(박형준)
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99801
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