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Article

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Neuromuscular disorders : NMD - 1 Sept 2003

Sparrow John C, Nowak Kristen J, Durling Hayley J, Beggs Alan H, Wallgren-Pettersson Carina, Romero Norma, Nonaka Ikuya, Laing Nigel G

Abstract excerpt

Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. At that time, only 15 different missense mutations were known in ACTA1. More than 60 mutations have now been identified. This review analyses this larger spectrum of mutations in ACTA1. It investigates the...

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Source

Identifiers

PMID: 12921789
DOI: 10.1016/s0960-8966(03)00101-9

Genes

ACTA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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