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Article

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Clinical genetics - 1 Dec 2025

Zarate Yuri A, Abdelmoti Lina, Oh Seungjae, White Andreya, Starks Cassandra, Au Margaret G, Chen Jing, Weaver Nicole K, Korotkov Konstantin V, Galperin Emilia

Abstract excerpt

Individuals carrying pathogenic variants in ACTC1 present with several cardiac phenotypes, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and left ventricular noncompaction cardiomyopathy. In the current work, we expand the clinical and genetic spectrum of phenotypes caused by ACTC1 genetic variants by describing two individuals with heterozygous variants involving residues Gly57 or Glu101. These...

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Identifiers

PMID: 40421724
DOI: 10.1111/cge.14775
PMCID: PMC12354105

Genes

ACTC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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