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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
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.
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DOI
10.3345/kjp.2014.57.3.149
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
강훈철(Kang, Hoon Chul) ORCID logo https://orcid.org/0000-0002-3659-8847
김흥동(Kim, Heung Dong) ORCID logo https://orcid.org/0000-0002-8031-7336
박형준(Park, Hyung Jun)
이영목(Lee, Young Mock) ORCID logo https://orcid.org/0000-0002-5838-249X
이준수(Lee, Joon Soo) ORCID logo https://orcid.org/0000-0001-9036-9343
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99801
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