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

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1 Published in 2023 at "Genes"

DOI: 10.3390/genes14030748

Abstract: 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… read more here.

Keywords: tnni3 mutations; tnni3; early onset; onset dilated ... See more keywords