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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

19 Sept 2023

Abstract excerpt

Background Familial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported in over 60 genes that encode proteins in sarcomeres, nuclear lamina, desmosomes, cytoskeleton, and mitochondria. Over half of the patients undergoing comprehensive genetic...

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PMID: 37795486
DOI: 10.3389/fcvm.2023.1254272

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