Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3
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DOI: 10.1111/cge.13645
Abstract: The underlying genetic mechanisms and early pathological events of children with primary cardiomyopathy (CMP) are insufficiently characterized. In this study, we aimed to characterize the mutational spectrum of primary CMP in a large cohort of… read more here.
Keywords: primary cmp; tnni3; pediatric primary; primary cardiomyopathy ... See more keywords
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature
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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