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

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

Research output: Contribution to journalArticlepeer-review


We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Postmortem 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 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy. (C) 2010 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)531-533
Number of pages3
JournalNeuromuscular disorders
Issue number8
Publication statusPublished - Aug 2010


  • ACTA1
  • Nemaline myopathy
  • Actin filament aggregate myopathy
  • Fetal akinesia sequence

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