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Updated: Jun 10, 2026
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Myofibrillar myopathies
1Department 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
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.
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