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

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

<i>MYPBC3</i> and <i>MYH7</i> 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 <i...

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Bibliographic Details
Main Authors: Raquel Rodríguez-López, Javier García-Planells, Marina Martínez-Matilla, Cristian Pérez-García, Amor García Banacloy, Carola Guzmán Luján, Otilia Zomeño Alcalá, Joaquina Belchi Navarro, Juan Martínez-León, Rafael Salguero-Bodes
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Life
Subjects:
<i>MYBPC3</i>
region of homozygosity
<i>MYH7</i>
cardiac phenotype
HPO terms
Online Access:https://www.mdpi.com/2075-1729/12/7/1035

Internet

https://www.mdpi.com/2075-1729/12/7/1035

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