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Article

Mechanisms underlying intranuclear rod formation.

Brain : a journal of neurology - 1 Dec 2007

Domazetovska Ana, Ilkovski Biljana, Cooper Sandra T, Ghoddusi Majid, Hardeman Edna C, Minamide Laurie S, Gunning Peter W, Bamburg James R, North Kathryn N

Abstract excerpt

Specific mutations within the alpha-skeletal actin gene (ACTA1) result in intranuclear rod myopathy (IRM), characterized by rod-like aggregates containing actin and alpha-actinin-2 inside the nucleus of muscle cells. The mechanism leading to formation of intranuclear aggregates containing sarcomeric proteins and their impact on cell function and contribution to disease pathogenesis is unknown. In this study, we...

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Identifiers

PMID: 17928315
DOI: 10.1093/brain/awm247

Genes

ACTA1

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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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