Myofibrillar myopathies

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

Purpose of review: The aim of this communication is to provide an up-to-date overview of myofibrillar myopathies (MFMs). Recent findings: The most important recent advance in the MFMs has been the identification of mutation in Bag3 (Bcl-2-associated athanogene-3) as a new cause of MFM. Although, the typical clinical manifestations of MFMs are slowly progressive weakness, the patients with Bag3opathy may have had a rapidly progressive and more severe phenotype. Summary: Several MFM disease genes have recently been recognized. The identified disease proteins (desmin, αB-crystallin, myotilin, Zasp, filamin C, and Bag3) interact with components or with chaperones of the Z-disk. In each case the molecular defect leads to a largely stereotyped cascade of structural perturbation of the muscle fiber architecture.

Original languageEnglish (US)
Pages (from-to)477-481
Number of pages5
JournalCurrent Opinion in Neurology
Volume23
Issue number5
DOIs
StatePublished - Oct 2010

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Keywords

  • αB-crystallin
  • Bag3
  • desmin
  • FHL1
  • filamin C
  • myofibrillar myopathy
  • myotilin
  • Zasp

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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