Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7

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...

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Detalles Bibliográficos
Autores principales: Antoniutti, Guido, Caimi-Martinez, Fiama Giuliana, Álvarez-Rubio, Jorge, Morlanes-Gracia, Paula, Pons-Llinares, Jaume, Rodríguez-Picón, Blanca, Fortuny-Frau, Elena, Torres-Juan, Laura, Heine-Suner, Damian, Ripoll-Vera, Tomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872101/
https://www.ncbi.nlm.nih.gov/pubmed/35205365
http://dx.doi.org/10.3390/genes13020320

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872101/
https://www.ncbi.nlm.nih.gov/pubmed/35205365
http://dx.doi.org/10.3390/genes13020320

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