Article
New aspects of myofibrillar myopathies.
Current opinion in neurology - 1 Oct 2016
Kley Rudolf A, Olivé Montse, Schröder Rolf
Abstract excerpt
PURPOSE OF REVIEW: Myofibrillar myopathies (MFMs) are hereditary muscle disorders characterized by distinct histopathological features. This review provides an overview of recent research with respect to new disease genes, clinical phenotypes, insights into pathomechanisms and therapeutic strategies. RECENT FINDINGS: Beyond the known disease genes DES, FLNC, MYOT, CRYAB, ZASP, BAG3, FHL1 and TTN, mutations in...
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