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Article

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Human molecular genetics - 15 Aug 2004

Ilkovski Biljana, Nowak Kristen J, Domazetovska Ana, Maxwell Adam L, Clement Sophie, Davies Kay E, Laing Nigel G, North Kathryn N, Cooper Sandra T

Abstract excerpt

We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle alpha-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased gamma-filamin, myotilin, desmin and alpha-actinin in many NM patients, consistent with accumulation of Z line-derived nemaline bodies. We demonstrate that nebulin can appear abnormal secondary to a primary defect in actin, and show...

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Source

Identifiers

PMID: 15198992
DOI: 10.1093/hmg/ddh185

Genes

ACTA1

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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