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Article

Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.

Biochemical and biophysical research communications - 30 Aug 2023

Atang Alexandra E, Rebbeck Robyn T, Thomas David D, Avery Adam W

Abstract excerpt

Hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM) are characterized by thickening, thinning, or stiffening, respectively, of the ventricular myocardium, resulting in diastolic or systolic dysfunction that can lead to heart failure and sudden cardiac death. Recently, variants in the ACTN2 gene, encoding the protein α-actinin-2, have been reported in HCM, DCM, and...

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Source

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Identifiers

PMID: 37271035
DOI: 10.1016/j.bbrc.2023.05.050
PMCID: PMC13217505

Genes

ACTN2

Provenance

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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Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.PMID 37271035Read ↗

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