Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.

Ochoa, Juan PabloLalaguna, LauraMirelis, Jesús G.Domínguez, FernandoGonzález López, EstherSalas, ClaraRoustan, GastonMcGurk, Kathryn A.Zheng, Sean L.Barton, Paul J.R.Ware, James S.Gómez-Gaviro, María VictoriaLara Pezzi, EnriqueGarcía Pavía, Pablo2024-07-182024-07-1820241941-3289https://hdl.handle.net/10641/5181Dilated 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.engAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/CardiomyopathiesDilated cardiomyopathyHuman geneticsTachycardia ventricularWhole exome sequencingBiallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.journal articleopen access10.1161/CIRCHEARTFAILURE.123.011226