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Article

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.

The Journal of biological chemistry - 14 Sept 2012

Parvatiyar Michelle S, Landstrom Andrew P, Figueiredo-Freitas Cicero, Potter James D, Ackerman Michael J, Pinto Jose Renato

Abstract excerpt

Defined as clinically unexplained hypertrophy of the left ventricle, hypertrophic cardiomyopathy (HCM) is traditionally understood as a disease of the cardiac sarcomere. Mutations in TNNC1-encoded cardiac troponin C (cTnC) are a relatively rare cause of HCM. Here, we report clinical and functional characterization of a novel TNNC1 mutation, A31S, identified in a pediatric HCM proband with multiple episodes of...

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Source

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Identifiers

PMID: 22815480
DOI: 10.1074/jbc.M112.377713
PMCID: PMC3442518

Genes

TNNC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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