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The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.
Ripoll Vera T, Monserrat Iglesias L, Hermida Prieto M, Ortiz M, Rodriguez Garcia I, Govea Callizo N, Gómez Navarro C, Rosell Andreo J, Gámez Martínez JM, Pons Lladó G, Cremer Luengos D, Torres Marqués J. Ripoll Vera T, et al. Among authors: ortiz m. Int J Cardiol. 2010 Nov 19;145(2):405-407. doi: 10.1016/j.ijcard.2010.04.032. Epub 2010 Jun 14. Int J Cardiol. 2010. PMID: 20542340
Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.
Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, Ortiz M, Rodríguez-García MI, Núñez L, Gimeno JR, Castro-Beiras A, Valdés M. Oliva-Sandoval MJ, et al. Among authors: ortiz m. Heart. 2010 Dec;96(24):1980-4. doi: 10.1136/hrt.2010.200402. Heart. 2010. PMID: 21088121
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