Neuromuscular Disorders
Volume 20, Issue 2 , Pages 139-141 , February 2010

Incontinetia pigmenti-related myopathy or unsolved “double trouble”?

  • H.B. Huttner

      Affiliations

    • Department of Neurology, University of Erlangen, Germany
    • ,
  • G. Richter

      Affiliations

    • Department of Neuroradiology, University of Erlangen, Germany
    • ,
  • A. Jünemann

      Affiliations

    • Department of Ophthalmology, University of Erlangen, Germany
    • ,
  • W. Kress

      Affiliations

    • Department of Human Genetics, University of Würzburg, Germany
    • ,
  • J. Weis

      Affiliations

    • Department of Neuropathology, University of Aachen, Germany
    • ,
  • J.M. Schröder

      Affiliations

    • Department of Neuropathology, University of Aachen, Germany
    • ,
  • A. Gal

      Affiliations

    • Department of Human Genetics, University of Hamburg, Germany
    • ,
  • A. Doerfler

      Affiliations

    • Department of Neuroradiology, University of Erlangen, Germany
    • ,
  • B. Udd

      Affiliations

    • Neuromuscular Center, Tampere University Hospital and Folkhalsan Genetic Institute, University of Helsinki, Finland
    • ,
  • R. Schröder

      Affiliations

    • Department of Neurology, University of Erlangen, Germany
    • Department of Neuropathology, University of Erlangen, Germany
    • Corresponding Author InformationCorresponding author. Address: Department of Neurology and Department of Neuropathology, University of Erlangen, Schwabachanlage 6, 91054 Erlangen, Germany. Tel.: +49 9131 85 44523; fax: +49 9131 8544576.

Received 24 August 2009 ,Revised 9 November 2009 ,Accepted 14 December 2009.

References 

  1. Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israel A, et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet. 2001;68:765–771
  2. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch–Sulzberger syndrome): a systemic disorder. Cutis. 2007;79:355–362
  3. Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet. 2001;69:1210–1217
  4. Larsen R, Ashwal S, Peckham N. Incontinentia pigmenti: association with anterior horn cell degeneration. Neurology. 1987;37:446–450
  5. Pascual-Castroviejo I, Roche MC, Martinez Fernandez V, Perez-Romero M, Escudero RM, Garcia-Penas JJ, et al. Incontinentia pigmenti: MR demonstration of brain changes. AJNR Am J Neuroradiol. 1994;15:1521–1527
  6. Shastry BS. Recent progress in the genetics of incontinentia pigmenti (Bloch–Sulzberger syndrome). J Hum Genet. 2000;45:323–326

PII: S0960-8966(09)00717-2

doi: 10.1016/j.nmd.2009.12.006

Neuromuscular Disorders
Volume 20, Issue 2 , Pages 139-141 , February 2010

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