Browsing Harvard Medical School by Keyword "Dilated cardiomyopathy"
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Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
(BioMed Central, 2013)Background: Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. To date, only ~50 disease-associated ...