Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family

MYPBC3 and MYH7 are the most frequently mutated genes in patients with hereditary HCM. Homozygous and compound heterozygous genotypes generate the most severe phenotypes. A 35-year-old woman who was a homozygous carrier of the p.(Pro1066Arg) variant in the MYBPC3 gene, developed HCM phenocopy associ...

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Detalles Bibliográficos
Autores principales: Rodríguez-López, Raquel, García-Planells, Javier, Martínez-Matilla, Marina, Pérez-García, Cristian, García Banacloy, Amor, Guzmán Luján, Carola, Zomeño Alcalá, Otilia, Belchi Navarro, Joaquina, Martínez-León, Juan, Salguero-Bodes, Rafael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316903/
https://www.ncbi.nlm.nih.gov/pubmed/35888124
http://dx.doi.org/10.3390/life12071035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316903/
https://www.ncbi.nlm.nih.gov/pubmed/35888124
http://dx.doi.org/10.3390/life12071035

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