Congenital myopathies

Research output: Contribution to journalArticle

Abstract

This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disoders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classification of these disorders and have reshuffled taxonomy for some of these conditions. Here, we focus on recent research advances in specific congenital myopathies, including nemaline myopathy, myotubular myopathy, centronuclear myopathy, central core myopathy, multi-minicore myopathy, congenital fiber-type disproportion myopathy, and hyaline body myopathy. Scientific progress has not only elucidated the pathologic mechanisms of these disorders, but it has also provided the basis for therapeutic strategies.

Original languageEnglish
Pages (from-to)73-79
Number of pages7
JournalCurrent Neurology and Neuroscience Reports
Volume8
Issue number1
DOIs
Publication statusPublished - Jan 2008

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

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