Congenital myopathies: An update

Jessica Nance, James J. Dowling, Elizabeth M. Gibbs, Carsten G. Bönnemann

Research output: Contribution to journalArticle

Abstract

Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated.

Original languageEnglish (US)
Pages (from-to)165-174
Number of pages10
JournalCurrent Neurology and Neuroscience Reports
Volume12
Issue number2
DOIs
Publication statusPublished - Apr 2012
Externally publishedYes

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Keywords

  • ACTA1
  • BIN1
  • Central core disease
  • Centronuclear myopathy
  • Cofilin 2
  • Congenital myopathy
  • Core myopathy
  • DNM2
  • KTBDB13
  • MTM1
  • Multiminicore disease
  • NEB
  • Nemaline rod myopathy
  • RYR1
  • SEPN1
  • TMP2
  • TNNT1
  • TPM3

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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