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Article

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

Cardiovascular research - 1 Aug 2013

Witjas-Paalberends E Rosalie, Piroddi Nicoletta, Stam Kelly, van Dijk Sabine J, Oliviera Vasco Sequeira, Ferrara Claudia, Scellini Beatrice, Hazebroek Mark, ten Cate Folkert J, van Slegtenhorst Marjon, dos Remedios Cris, Niessen Hans W M, Tesi Chiara, Stienen Ger J M, Heymans Stephane, Michels Michelle, Poggesi Corrado, van der Velden Jolanda

Abstract excerpt

AIMS: Familial hypertrophic cardiomyopathy (HCM), frequently caused by sarcomeric gene mutations, is characterized by cellular dysfunction and asymmetric left-ventricular (LV) hypertrophy. We studied whether cellular dysfunction is due to an intrinsic sarcomere defect or cardiomyocyte remodelling. METHODS AND RESULTS: Cardiac samples from 43 sarcomere mutation-positive patients (HCMmut: mutations in thick...

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Topics

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Share to Cardiac Myosins
Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23674513
DOI: 10.1093/cvr/cvt119

Genes

MYH7
MYBPC3
TNNI3
TNNT2
TPM1

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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