Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis

被引：26

作者：

Darras, BT

Jones, HR

机构：

[1] Childrens Hosp, Dept Neurol, Neuromuscular Program, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA

[3] Childrens Hosp, Electromyog Lab, Boston, MA 02115 USA

[4] Lahey Clin Fdn, Dept Neurol, Burlington, MA USA

来源：

PEDIATRIC NEUROLOGY | 2000年 / 23卷 / 04期

关键词：

D O I：

10.1016/S0887-8994(00)00202-2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Extraordinary breakthroughs in the molecular pathogenesis of muscle and nerve disease have resulted in an evolving genetic classification of neuromuscular disorders and the development of new diagnostic methods. This remarkable progress has introduced new genetic tests and has changed the indications for use of certain invasive diagnostic procedures in the evaluation of children with presumed disorders of the motor unit. In this review, we present the current diagnostic approach to the more common neuromuscular diseases of infancy and childhood and define the diagnostic role of muscle biopsy and pediatric electromyography/nerve conduction studies in the era of genetic analysis. (C) 2000 by Elsevier Science Inc. All rights reserved.

引用

页码：289 / 300

页数：12

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