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Article

Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

Journal of medical genetics - 1 Mar 1998

Yu B, French J A, Carrier L, Jeremy R W, McTaggart D R, Nicholson M R, Hambly B, Semsarian C, Richmond D R, Schwartz K, Trent R J

Abstract excerpt

DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere. The majority of mutations in the FHC genes result from missense changes, although one of the most recent genes to be identified (cardiac myosin binding protein C gene, MYBPC3) has predominantly DNA mutations which produce truncated proteins. Both...

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Source

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Identifiers

PMID: 9541104
DOI: 10.1136/jmg.35.3.205
PMCID: PMC1051243

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.

Related research

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Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.PMID 9541104Read ↗

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