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Article

Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature.

Genes - 19 Mar 2023

Sorrentino Ugo, Gabbiato Ilaria, Canciani Chiara, Calosci Davide, Rigon Chiara, Zuccarello Daniela, Cassina Matteo

Abstract excerpt

The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. While heterozygous TNNI3 missense mutations have long been associated with autosomal dominant hypertrophic and restrictive cardiomyopathies, the role of TNNI3 null mutations has been more debated due to the paucity and weak characterization of reported cases and the low penetrance of...

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Identifiers

PMID: 36981019
DOI: 10.3390/genes14030748
PMCID: PMC10048074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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