Neuromuscular Disorders
Volume 20, Issue 8 , Pages 531-533 , August 2010

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

  • Werner Stenzel

      Affiliations

    • Institute of Neuropathology, Charité University Medicine, Berlin, Germany
    • Corresponding Author InformationCorresponding author. Address: Department of Neuropathology, Charité – Universitätsmedizin Berlin, Charité Campus Mitte – Virchowweg 15, Charitéplatz 1, D-10117 Berlin, Germany. Tel.: +49 (0)30 450 536 073; fax: +49 (0)30 450 536 940.
    • ,
  • Stefan Prokop

      Affiliations

    • Institute of Neuropathology, Charité University Medicine, Berlin, Germany
    • ,
  • Wolfram Kress

      Affiliations

    • Department of Human Genetics, Würzburg, Germany
    • ,
  • Stephanie Huppmann

      Affiliations

    • Department of Neonatology, Charité University Medicine, Berlin, Germany
    • ,
  • Andrea Loui

      Affiliations

    • Department of Neonatology, Charité University Medicine, Berlin, Germany
    • ,
  • Nanette M.E. Sarioglu

      Affiliations

    • Institute of Pathology and Placentology, Charité University Medicine, Berlin, Germany
    • ,
  • Nigel G. Laing

      Affiliations

    • Center for Medical Research, University of Western Australia M519, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    • ,
  • John C. Sparrow

      Affiliations

    • Department of Biology (Area 10), University of York, York YO10 5DD, UK
    • ,
  • Frank L. Heppner

      Affiliations

    • Institute of Neuropathology, Charité University Medicine, Berlin, Germany
    • ,
  • Hans H. Goebel

      Affiliations

    • Institute of Neuropathology, Charité University Medicine, Berlin, Germany
    • Department of Neuropathology, University Medicine, Johannes Gutenberg University, Mainz, Germany

Received 23 March 2010 ,Revised 27 May 2010 ,Accepted 15 June 2010.

References 

  1. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91(Suppl. 4):40–46
  2. Lacson AG, Donaldson G, Barness EG, Ranells JD, Pomerance HH. Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures. Pediatr Pathol Mol Med. 2002;21:569–584
  3. Lammens M, Moerman P, Fryns JP, et al. Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics. 1997;28:116–119
  4. Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999;23:208–212
  5. North KN, Laing NG. Skeletal muscle alpha-actin diseases. Adv Exp Med Biol. 2008;642:15–27
  6. Laing NG, Clarke NF, Dye DE, et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol. 2004;56:689–694
  7. Goebel HH, Anderson JR, Hubner C, Oexle K, Warlo I. Congenital myopathy with excess of thin myofilaments. Neuromuscular Disord. 1997;7:160–168
  8. Laing NG, Dye DE, Wallgren-Pettersson C, et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009;30:1267–1277
  9. Sparrow JC, Nowak KJ, Durling HJ, et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscular Disord. 2003;13:519–531
  10. Sheterline P, Clayton J, Sparrow J. Actin. Protein Profile. 1995;2:1–103
  11. Holmes KC, Popp D, Gebhard W, Kabsch W. Atomic model of the actin filament. Nature. 1990;347:44–49
  12. Kabsch W, Holmes KC. The actin fold. Faseb J. 1995;9:167–174
  13. Kabsch W, Mannherz HG, Suck D, Pai EF, Holmes KC. Atomic structure of the actin:DNase I complex. Nature. 1990;347:37–44
  14. Bornemann A, Petersen MB, Schmalbruch H. Fatal congenital myopathy with actin filament deposits. Acta Neuropathol. 1996;92:104–108
  15. Schroder JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol. 2004;108:250–256
  16. Goez H, Sira LB, Jossiphov J, et al. Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene. J Child Neurol. 2005;20:236–239
  17. Goebel HH, Laing NG. Actinopathies and myosinopathies. Brain Pathol. 2009;19:516–522

PII: S0960-8966(10)00262-2

doi: 10.1016/j.nmd.2010.06.008

Neuromuscular Disorders
Volume 20, Issue 8 , Pages 531-533 , August 2010

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