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Article

Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.

Arquivos brasileiros de cardiologia - 1 Apr 2017

Rafael Julianny Freitas, Cruz Fernando Eugênio Dos Santos, Carvalho Antônio Carlos Campos de, Gottlieb Ilan, Cazelli José Guilherme, Siciliano Ana Paula, Dias Glauber Monteiro

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28538763
DOI: 10.5935/abc.20170045
PMCID: PMC5421475

Genes

MYBPC3
MYH7
TNNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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