Desmin – related restrictive cardiomyopathy (RCD code: III-3E)
Journal Title: Journal of Rare Cardiovascular Diseases - Year 2013, Vol 1, Issue 5
Abstract
Desmin – related myopathy is a chronic neuromuscular disorder caused by a mutation of desmin, an intermediate filament of the myocardial, skeletal, and smooth muscles. Clinical manifestations include skeletal myopathy, cardiac abnormalities, conduction disorders, or various types of arrhythmias. We present a case of a 33‑year‑old male with an end – stage restrictive cardiomyopathy and peripheral muscles myopathy caused by desmin mutation. JRCD 2013; 1 (5): 20–24
Authors and Affiliations
Jakub Stępniewski, Grzegorz Kopeć, Piotr Wilkołek, Paweł Rubiś, Bartosz Sobień
Keywords
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- EP ID EP248126
- DOI 10.20418/jrcd.vol1no5.131
- Views 96
- Downloads 0
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