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Article

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.

Neuromuscular disorders : NMD - 1 Aug 2010

Stenzel Werner, Prokop Stefan, Kress Wolfram, Huppmann Stephanie, Loui Andrea, Sarioglu Nanette M E, Laing Nigel G, Sparrow John C, Heppner Frank L, Goebel Hans H

Abstract excerpt

We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1...

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Source

Identifiers

PMID: 20621480
DOI: 10.1016/j.nmd.2010.06.008

Genes

ACTA1

Variants

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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