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Article

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy.

Neuromuscular disorders : NMD - 1 Feb 2004

Marston Steven, Mirza Mahmooda, Abdulrazzak Hassan, Sewry Caroline

Abstract excerpt

The mutation Met132Val in the ACTA1 gene was identified in a patient with mild nemaline myopathy (NM). We examined actin mRNA and protein from biopsy samples. Sixty-one percent of the mRNA from the biopsy was not cleaved with BstX1, indicating the presence of mutant messenger in vivo. Monomeric a...

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Source

Identifiers

PMID: 14733965
DOI: 10.1016/j.nmd.2003.11.003

Genes

ACTA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14733965-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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