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Article

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.

Journal of genetics - 1 Jan 2023

Udani Rupa, Schilter Kala F, Tyler Rebecca C, Smith Brandon A, Wendtandrae Jaime L, Kappes Ulrike P, Scharer Gunter, Lehman Anna, Steinraths Michelle, Reddi Honey V

Abstract excerpt

Pediatric cardiomyopathies (CM) are rare and challenging to diagnose due to the complex and mixed phenotypes. With the advent of next-generation sequencing (NGS), variants in several genes associated with CM have been identified, such as Troponin C (TnC), encoded by the TNNC1 gene. De novo variants in TNNC1 have been associated with different types of CM, including dilated cardiomyopathy (DCM) and hypertrophic...

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PMID: 36814108

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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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