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Article

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

European journal of medical genetics - 1 Jan 2000

Millat Gilles, Bouvagnet Patrice, Chevalier Philippe, Dauphin Claire, Jouk Pierre Simon, Da Costa Antoine, Prieur Fabienne, Bresson Jean-Luc, Faivre Laurence, Eicher Jean-Christophe, Chassaing Nicolas, Crehalet Hervé, Porcher Raphael, Rodriguez-Lafrasse Claire, Rousson Robert

Abstract excerpt

Hypertrophic Cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden cardiac death, is mostly caused by mutations in sarcomeric genes but modifiers genes may also modulate the phenotypic expression of HCM mutations. The aim of the current study was to report the frequency of single and multiple gene mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20624503
DOI: 10.1016/j.ejmg.2010.07.007

Genes

MYBPC3
MYH7
TNF
TNNI3
TNNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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