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Article

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.

Journal of molecular and cellular cardiology - 1 Feb 2015

Barefield David, Kumar Mohit, Gorham Joshua, Seidman Jonathan G, Seidman Christine E, de Tombe Pieter P, Sadayappan Sakthivel

Abstract excerpt

Mutations in MYBPC3, the gene encoding cardiac myosin binding protein-C (cMyBP-C), account for ~40% of hypertrophic cardiomyopathy (HCM) cases. Most pathological MYBPC3 mutations encode truncated protein products not found in tissue. Reduced protein levels occur in symptomatic heterozygous human HCM carriers, suggesting haploinsufficiency as an underlying mechanism of disease. However, we do not know if reduced...

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Source

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Identifiers

PMID: 25463273
DOI: 10.1016/j.yjmcc.2014.11.018
PMCID: PMC4642280

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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