首页    期刊浏览 2024年11月27日 星期三
登录注册

文章基本信息

  • 标题:Congenital muscular dystrophy type 1A with residual merosin expression
  • 本地全文:下载
  • 作者:Kim, Hyo Jeong ; Choi, Young-Chul ; Park, Hyung Jun
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2014
  • 卷号:57
  • 期号:3
  • 页码:149-152
  • DOI:10.3345/kjp.2014.57.3.149
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    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.

  • 关键词:Merosin-deficient congenital muscular dystrophy; Laminin alpha2; Immunohistochemistry
国家哲学社会科学文献中心版权所有