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Article

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Journal of the American College of Cardiology - 2 Nov 2004

Van Driest Sara L, Vasile Vlad C, Ommen Steve R, Will Melissa L, Tajik A Jamil, Gersh Bernard J, Ackerman Michael J

Abstract excerpt

OBJECTIVES: We sought to determine the frequency and phenotype of mutations in myosin binding protein C (MYBPC3) in a large outpatient cohort of patients with hypertrophic cardiomyopathy (HCM) seen at our tertiary referral center. BACKGROUND: Mutations in MYBPC3 are one of the most frequent genetic causes of HCM and have been associated with variable onset of disease and prognosis. However, the frequency of...

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Source

Identifiers

PMID: 15519027
DOI: 10.1016/j.jacc.2004.07.045

Genes

MYBPC3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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