Duygu Selcen1. 1. Department of Neurology, Division of Child Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA. Selcen.duygu@mayo.edu
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.
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.
Authors: Matthew B Harms; R Brian Sommerville; Peggy Allred; Shaughn Bell; Duanduan Ma; Paul Cooper; Glenn Lopate; Alan Pestronk; Conrad C Weihl; Robert H Baloh Journal: Ann Neurol Date: 2012-02-14 Impact factor: 10.422