Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.
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Abstract
Dilated cardiomyopathy (DCM) is the most frequent cause of heart failure in the young and the leading cause of transplantation. Almost half of the cases have a familial (hereditary) component, but even in familial cases, the diagnostic yield of genetic testing is lower than <40%.1 Myocardial zonula adherens protein (MYZAP) gene encodes a protein widely expressed in cardiac tissue, being an emerging candidate to become a DCM-associated gene.