Myofibrillar myopathies

Curr Opin Neurol. 2010 Oct;23(5):477-81. doi: 10.1097/WCO.0b013e32833d38b0.

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, alphaB-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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism
  • Animals
  • Crystallins / genetics
  • Crystallins / metabolism
  • Desmin / genetics
  • Desmin / metabolism
  • Humans
  • LIM Domain Proteins
  • Muscle Fibers, Skeletal / pathology
  • Muscle Fibers, Skeletal / physiology
  • Muscle Proteins / genetics
  • Muscular Diseases* / genetics
  • Muscular Diseases* / pathology
  • Muscular Diseases* / physiopathology
  • Mutation
  • Myofibrils* / pathology
  • Myofibrils* / physiology

Substances

  • Adaptor Proteins, Signal Transducing
  • Crystallins
  • Desmin
  • LDB3 protein, human
  • LIM Domain Proteins
  • Muscle Proteins