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Article

Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.

American journal of medical genetics. Part A - 1 Jan 2025

Patsalis Constantinos, Kyriakou Skevi, Georgiadou Michaella, Ioannou Lygia, Constantinou Louisa, Soteriou Valando, Jossif Antonis, Evangelidou Paola, Sismani Carolina, Kypri Elena, Ioannides Marios, Koumbaris George

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) have significant phenotypic overlap and a similar genetic background, both caused mainly by variants in sarcomeric genes. HCM is the most common cardiomyopathy, while RCM is a rare and often underdiagnosed heart condition, with a poor prognosis. This study focuses on a large family with four infants diagnosed with fatal RCM associated with...

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Identifiers

PMID: 39248034
DOI: 10.1002/ajmg.a.63838

Genes

TNNC1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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