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

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 zonu...

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Detalles Bibliográficos
Autores: Ochoa, Juan Pablo, Lalaguna, Laura, Mirelis, Jesús G., Domínguez, Fernando, González López, Esther, Salas, Clara, Roustan, Gaston, McGurk, Kathryn A., Zheng, Sean L., Barton, Paul J.R., Ware, James S., Gómez-Gaviro, María Victoria, Lara Pezzi, Enrique, García Pavía, Pablo
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad Francisco de Vitoria
Repositorio:DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Idioma:inglés
OAI Identifier:oai:ddfv.ufv.es:10641/5181
Acceso en línea:https://hdl.handle.net/10641/5181
Access Level:acceso abierto
Palabra clave:Cardiomyopathies
Dilated cardiomyopathy
Human genetics
Tachycardia ventricular
Whole exome sequencing
Descripción
Sumario: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.

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