Format

Send to

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

Myofibrillar myopathies.

Author information

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.

PMID:
20664348
DOI:
10.1097/WCO.0b013e32833d38b0
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center