Article
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males.
Open heart - 1 Sept 2021
Méndez Irene, Fernández Ana Isabel, Espinosa Maria Ángeles, Cuenca Sofía, Lorca Rebeca, Rodríguez José Fernando, Tamargo Maria, García-Montero Marta, Gómez Cristina, Vilches Silvia, Vázquez Nélida, Álvarez Reyes, Medrano Constancio, Yotti Raquel, Fernández-Avilés Francisco, Bermejo Javier
Abstract excerpt
OBJECTIVE: One of the challenges in hypertrophic cardiomyopathy (HCM) is to determine the pathogenicity of genetic variants and to establish genotype/phenotype correlations. This study aimed to: (1) demonstrate that MYBPC3 c.2149-1G>A is a founder pathogenic variant, (2) describe the phenotype and clinical characteristics of mutation carriers and (3) compare these patients with those with the most frequent...
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