Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males

Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males

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...

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Main Authors: Raquel Yotti, Francisco Fernández-Avilés, Javier Bermejo, Ana Isabel Fernandez, Cristina Gómez, Constancio Medrano, Irene Méndez, Maria Ángeles Espinosa, Sofía Cuenca, Rebeca Lorca, José Fernando Rodríguez, Maria Tamargo, Marta García-Montero, Silvia Vilches, Nélida Vázquez, Reyes Álvarez
Format: Article
Language:English
Published: BMJ Publishing Group 2021-12-01
Series:Open Heart
Online Access:https://openheart.bmj.com/content/8/2/e001789.full
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https://openheart.bmj.com/content/8/2/e001789.full

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