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Article

A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jul 2018

Kao Justin C, Liewluck Teerin, Milone Margherita

Abstract excerpt

We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic late-onset nemaline myopathy (SLONM), which is a treatable acquired muscle disease often associated with monoclonal gammopathy or HIV infection. Both...

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Source

Identifiers

PMID: 29731279
DOI: 10.1016/j.jocn.2018.04.044

Genes

ACTA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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