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 an...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Heart Failure and Cardiomyopathies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8483030/
https://www.ncbi.nlm.nih.gov/pubmed/34588271
http://dx.doi.org/10.1136/openhrt-2021-001789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8483030/
https://www.ncbi.nlm.nih.gov/pubmed/34588271
http://dx.doi.org/10.1136/openhrt-2021-001789

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