Article
The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.
International journal of cardiology - 19 Nov 2010
Ripoll Vera Tomás, Monserrat Iglesias Lorenzo, Hermida Prieto Manuel, Ortiz Martin, Rodriguez Garcia Isabel, Govea Callizo Nancy, Gómez Navarro Carlos, Rosell Andreo Jordi, Gámez Martínez José María, Pons Lladó Guillermo, Cremer Luengos David, Torres Marqués Joan
Abstract excerpt
BACKGROUND: The R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans. AIMS: To describe the phenotype associated with the R820W mutation identified in a human family. METHODS: The R820W was identified by direct sequencing of the MYBPC3 gene in a 47 year old woman with HCM and left ventricular...
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