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Article

Mutation update for the ACTN2 gene.

Human mutation - 1 Dec 2022

Ranta-Aho Johanna, Olive Montse, Vandroux Marie, Roticiani Giorgia, Dominguez Cristina, Johari Mridul, Torella Annalaura, Böhm Johann, Turon Janina, Nigro Vincenzo, Hackman Peter, Laporte Jocelyn, Udd Bjarne, Savarese Marco

Abstract excerpt

ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin filaments. This important structural protein also binds N-terminal titins, and thus contributes to sarcomere stability. Previously, ACTN2 mutations have been solely associated with cardiomyopathy, without skeletal muscle disease....

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Identifiers

PMID: 36116040
DOI: 10.1002/humu.24470
PMCID: PMC10087778

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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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