Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in <i>MYH7</i>

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in <i>MYH7</i>

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband’s risk, as it allows the presence of the mutation to be evaluated in relatives...

Full description

Bibliographic Details
Main Authors: Guido Antoniutti, Fiama Giuliana Caimi-Martinez, Jorge Álvarez-Rubio, Paula Morlanes-Gracia, Jaume Pons-Llinares, Blanca Rodríguez-Picón, Elena Fortuny-Frau, Laura Torres-Juan, Damian Heine-Suner, Tomas Ripoll-Vera
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Genes
Subjects:
hypertrophic cardiomyopathy
cardiomyopathies
cardiomyopathy
genetic
genetic testing
next-generation sequencing
Online Access:https://www.mdpi.com/2073-4425/13/2/320

Internet

https://www.mdpi.com/2073-4425/13/2/320

Similar Items