By the same authors

From the same journal

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

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Published copy (DOI)

Author(s)

  • 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

Department/unit(s)

Publication details

JournalNeuromuscular disorders
DatePublished - Aug 2010
Issue number8
Volume20
Number of pages3
Pages (from-to)531-533
Original languageEnglish

Abstract

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.

    Research areas

  • ACTA1, Nemaline myopathy, Actin filament aggregate myopathy, Fetal akinesia sequence, CONGENITAL MYOPATHY, NEMALINE MYOPATHY

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