Key result
A 33-year-old male presented with end-stage restrictive cardiomyopathy and peripheral muscle myopathy caused by a desmin mutation.
Case Report (n=1)
Highlights the clinical presentation of desmin-related myopathy involving end-stage restrictive cardiomyopathy and peripheral myopathy.
Consider desmin mutations in young adults with restrictive cardiomyopathy plus myopathy; leaves open prevalence and targeted screening needs.
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
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Stępniewski et al. (2013) conducted a case report in Desmin-related restrictive cardiomyopathy (n=1). Desmin mutation was evaluated on Clinical manifestations. A 33-year-old male presented with end-stage restrictive cardiomyopathy and peripheral muscle myopathy caused by a desmin mutation.
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