What's new in neuromuscular disorders? The congenital myopathies

Eur J Paediatr Neurol. 2003;7(1):23-30. doi: 10.1016/s1090-3798(02)00136-8.


The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular myopathy. Recent years have seen genetic resolution of a proportion of these conditions. The following review summarizes recent genetic findings in the congenital myopathies and outlines implications for our understanding of their pathophysiological basis and their relation to other neuromuscular disorders.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Myopathies, Nemaline / diagnosis
  • Myopathies, Nemaline / genetics
  • Myopathies, Structural, Congenital / diagnosis
  • Myopathies, Structural, Congenital / genetics*
  • Myopathy, Central Core / diagnosis
  • Myopathy, Central Core / genetics