Congenital myopathies

Research output: Contribution to journalArticlepeer-review


The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses.

Original languageEnglish
Pages (from-to)68-73
Number of pages6
JournalCurrent Neurology and Neuroscience Reports
Issue number1
Publication statusPublished - Jan 2004

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)


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