期刊
CURRENT OPINION IN NEUROLOGY
卷 23, 期 5, 页码 477-481出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0b013e32833d38b0
关键词
alpha B-crystallin; Bag3; desmin; FHL1; filamin C; myofibrillar myopathy; myotilin; Zasp
资金
- National Institutes of Health [K08 NS050106]
- Mayo Foundation
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, alpha B-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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