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文章基本信息

  • 标题:Neuromuscular disorders in children : Diagnosis and treatment
  • 本地全文:下载
  • 作者:Chae, Jong Hee
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2008
  • 卷号:51
  • 期号:12
  • 页码:1295-1299
  • DOI:10.3345/kjp.2008.51.12.1295
  • 语种:Korean
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.

  • 关键词:Muscular dystrophy; Diagnosis; Treatment; Children
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