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Article

Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.

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

Hodatsu Akihiko, Konno Tetsuo, Hayashi Kenshi, Funada Akira, Fujita Takashi, Nagata Yoji, Fujino Noboru, Kawashiri Masa-Aki, Yamagishi Masakazu

Abstract excerpt

Although most founder mutation carriers of hypertrophic cardiomyopathy (HCM), such as the cardiac myosin-binding protein C gene (MYBPC3), arose from a common ancestor exhibit favorable clinical phenotypes, there still remain small fractions of these carriers associated with increased cardiovascular events. However, few data exist regarding the defining factors that modify phenotypes of these patients,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25281569
DOI: 10.1152/ajpheart.00637.2013

Genes

MYBPC3

Provenance

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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