Congenital muscular dystrophy type 1A with residual merosin expression

Hyo Jeong Kim, Young Chul Choi, Hyung Jun Park, Young Mock Lee, Heung Dong Kim, Joon Soo Lee, Hoon Chul Kang

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)149-152
Number of pages4
JournalKorean Journal of Pediatrics
Volume57
Issue number3
DOIs
Publication statusPublished - 2014 Mar

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Pediatrics

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