Congenital myopathies/dystrophies

Neurol Clin. 2003 Nov;21(4):779-94; v-vi. doi: 10.1016/s0733-8619(03)00013-6.

Abstract

The congenital myopathies and congenital muscular dystrophies are a group of relatively infrequent neuromuscular disorders. Ultimate understanding of these disorders, however, will undoubtedly shed considerable light on skeletal muscle development and function. Three classical congenital myopathies are central core disease, nemaline myopathy, and centronuclear myopathy. The congenital muscular dystrophies are often distinguished by whether or not they are associated with clinically evident cerebral involvement.

Publication types

  • Review

MeSH terms

  • Child
  • Humans
  • Muscle Fibers, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Myopathies, Structural, Congenital / classification
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology