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Article

Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy.

Genetic testing and molecular biomarkers - 1 Oct 2009

Curila Karol, Benesova Lucie, Penicka Martin, Minarik Marek, Zemanek David, Veselka Josef, Widimsky Petr, Gregor Pavel

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in cardiac sarcomeric proteins. Troponin I (TNNI3) and troponin T (TNNT2) are important parts of the sarcomere in heart muscle, and mutations in their genes are responsible for development of HCM. The prevalence of mutations in these two genes is low; hence, the data on clinical outcome are scarce. Yet, some of these mutations...

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Source

Identifiers

PMID: 19645627
DOI: 10.1089/gtmb.2009.0041

Genes

TNNI3
TNNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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