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Article

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.

Heart (British Cardiac Society) - 1 Dec 2010

Oliva-Sandoval M José, Ruiz-Espejo Francisco, Monserrat Lorenzo, Hermida-Prieto Manuel, Sabater Maria, García-Molina Esperanza, Ortiz Martín, Rodríguez-García M Isabel, Núñez Lucia, Gimeno Juan R, Castro-Beiras Alfonso, Valdés Mariano

Abstract excerpt

BACKGROUND: Mutations in the cardiac myosin-binding protein C (MYBPC3) gene are frequently found as a cause of hypertrophic cardiomyopathy (HCM). However, only a few studies have analysed genotype-phenotype correlations in small series of patients. The present study sought to determine the clinical characteristics, penetrance and prognosis of HCM with an identical mutation in MYBPC3. METHODS: 154 non-related...

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Source

Identifiers

PMID: 21088121
DOI: 10.1136/hrt.2010.200402

Genes

MYBPC3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.PMID 21088121Read ↗

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