Desmin – related restrictive cardiomyopathy (RCD code: III-3E)

Jakub Stępniewski, Grzegorz Kopeć, Piotr Wilkołek, Paweł Rubiś, Bartosz Sobień, Piotr Podolec

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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

Keywords


Desminopathy, heart failure, myopathy, desmin mutation

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DOI: http://dx.doi.org/10.20418%2Fjrcd.vol1no5.131

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