Abstract
Hyaline body myopathy/myosin storage myopathy is a rare congenital myopathy characterized by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibers. Mutation in the slow/beta cardiac myosin heavy chain gene was identified in hyaline body myopathy (in European population) as well as missense mutations in the same gene are frequent causes of hypertrophic cardiomyopathy. We describe a 10 year follow-up data of a 48-year-old male with the diagnosis of hyaline body myopathy which is accompanied by a life-restricted, dilated cardiomyopathy and respiratory distress.
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