Congenital muscular dystrophy type 1A with residual merosin expression
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...
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Korean Pediatric Society
2014-03-01
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doaj-ccbd9810b472412c8ccf45e8156c085d2020-11-25T01:34:26ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582014-03-0157314915210.3345/kjp.2014.57.3.1492013600024Congenital muscular dystrophy type 1A with residual merosin expressionHyo Jeong Kim0Young-Chul Choi1Hyung Jun Park2Young-Mock Lee3Heung Dong Kim4Joon Soo Lee5Hoon-Chul Kang6Department of Pediatrics, Konyang University College of Medicine, Deajeon, Korea.Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.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.http://kjp.or.kr/upload/pdf/kjped-57-149.pdfMerosin-deficient congenital muscular dystrophyLaminin alpha2Immunohistochemistry |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hyo Jeong Kim Young-Chul Choi Hyung Jun Park Young-Mock Lee Heung Dong Kim Joon Soo Lee Hoon-Chul Kang |
spellingShingle |
Hyo Jeong Kim Young-Chul Choi Hyung Jun Park Young-Mock Lee Heung Dong Kim Joon Soo Lee Hoon-Chul Kang Congenital muscular dystrophy type 1A with residual merosin expression Korean Journal of Pediatrics Merosin-deficient congenital muscular dystrophy Laminin alpha2 Immunohistochemistry |
author_facet |
Hyo Jeong Kim Young-Chul Choi Hyung Jun Park Young-Mock Lee Heung Dong Kim Joon Soo Lee Hoon-Chul Kang |
author_sort |
Hyo Jeong Kim |
title |
Congenital muscular dystrophy type 1A with residual merosin expression |
title_short |
Congenital muscular dystrophy type 1A with residual merosin expression |
title_full |
Congenital muscular dystrophy type 1A with residual merosin expression |
title_fullStr |
Congenital muscular dystrophy type 1A with residual merosin expression |
title_full_unstemmed |
Congenital muscular dystrophy type 1A with residual merosin expression |
title_sort |
congenital muscular dystrophy type 1a with residual merosin expression |
publisher |
Korean Pediatric Society |
series |
Korean Journal of Pediatrics |
issn |
1738-1061 2092-7258 |
publishDate |
2014-03-01 |
description |
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. |
topic |
Merosin-deficient congenital muscular dystrophy Laminin alpha2 Immunohistochemistry |
url |
http://kjp.or.kr/upload/pdf/kjped-57-149.pdf |
work_keys_str_mv |
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