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Article

Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.

American journal of physiology. Heart and circulatory physiology - 1 Mar 2014

Barefield David, Kumar Mohit, de Tombe Pieter P, Sadayappan Sakthivel

Abstract excerpt

The etiology of hypertrophic cardiomyopathy (HCM) has been ascribed to mutations in genes encoding sarcomere proteins. In particular, mutations in MYBPC3, a gene which encodes cardiac myosin binding protein-C (cMyBP-C), have been implicated in over one third of HCM cases. Of these mutations, 70% are predicted to result in C'-truncated protein products, which are undetectable in tissue samples. Heterozygous...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24464755
DOI: 10.1152/ajpheart.00913.2013
PMCID: PMC3949045

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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Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.PMID 24464755Read ↗

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