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Article

Clinical Variability Including Non-Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an Intragenic CTNNA3 Copy Number Variation.

Clinical genetics - 1 Sept 2026

Fusco Carmela, Mastroianno Sandra, Morlino Silvia, Pracella Riccardo, Russo Federica, Bevere Ester Maria Lucia, Palumbo Orazio, Di Stolfo Giuseppe, Castori Marco

Abstract excerpt

CTNNA3 encodes αT-catenin, which contributes to the integrity of the myocardium. Single nucleotide variants are occasionally associated with arrhythmogenic right ventricular cardiomyopathy, and structural variations are apparently enriched in neurodevelopmental disorders. We report a multiplex family in which a ~60 kb microdeletion of CTNNA3 co-segregates with a variable, heart-restricted phenotype including...

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Identifiers

PMID: 42290130
DOI: 10.1111/cge.70196
PMCID: PMC13431715

Genes

CTNNA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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