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Article

Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.

Circulation. Genomic and precision medicine - 1 Oct 2020

Fahed Akl C, Nemer Georges, Bitar Fadi F, Arnaout Samir, Abchee Antoine B, Batrawi Manal, Khalil Athar, Abou Hassan Ossama K, DePalma Steven R, McDonough Barbara, Arabi Mariam T, Ware James S, Seidman Jonathan G, Seidman Christine E

Abstract excerpt

BACKGROUND: Cardiac troponin I (TNNI3) gene mutations account for 3% of hypertrophic cardiomyopathy and carriers have a heterogeneous phenotype, with increased risk of sudden cardiac death (SCD). Only one mutation (p.Arg21Cys) has been reported in the N terminus of the protein. In model organisms, it impairs PKA (protein kinase A) phosphorylation, increases calcium sensitivity, and causes diastolic dysfunction....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32885985
DOI: 10.1161/CIRCGEN.120.002991
PMCID: PMC7676616

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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