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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

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