Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

doi:10.1161/CIRCGEN.120.002929

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Article

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Circulation. Genomic and precision medicine - 1 Oct 2020

Helms Adam S, Thompson Andrea D, Glazier Amelia A, Hafeez Neha, Kabani Samat, Rodriguez Juliani, Yob Jaime M, Woolcock Helen, Mazzarotto Francesco, Lakdawala Neal K, Wittekind Samuel G, Pereira Alexandre C, Jacoby Daniel L, Colan Steven D, Ashley Euan A, Saberi Sara, Ware James S, Ingles Jodie, Semsarian Christopher, Michels Michelle, Olivotto Iacopo, Ho Carolyn Y, Day Sharlene M

Abstract excerpt

BACKGROUND: Pathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large number of unique MYBPC3 variants and relatively small genotyped hypertrophic cardiomyopathy cohorts have precluded detailed genotype-phenotype correlations. METHODS: Patients with hypertrophic cardiomyopathy and MYBPC3 variants were identified...

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Identifiers

PMID: 32841044
DOI: 10.1161/CIRCGEN.120.002929
PMCID: PMC7676622

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

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