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Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation
  1. H M E Bienfait1,
  2. C G Faber3,
  3. F Baas6,
  4. A A W M Gabreëls-Festen5,
  5. J H T M Koelman1,
  6. J E Hoogendijk2,
  7. J J Verschuuren4,
  8. J H J Wokke2,
  9. M de Visser1
  1. 1Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
  2. 2University Medical Centre Utrecht, Utrecht, Netherlands
  3. 3University Hospital Maastricht, Maastricht, Netherlands
  4. 4Leiden University Medical Centre, Leiden, Netherlands
  5. 5Institute of Neurology, University Medical Centre St Radboud, Nijmegen, Netherlands
  6. 6Neurogenetics Laboratory, Academic Medical Centre, University of Amsterdam, Netherlands
  1. Correspondence to:
 Professor M de Visser
 Department of Neurology H2-222, Academic Medical Centre, PO Box 22660, 1100 DD Amsterdam, Netherlands; M.deVisser{at}amc.uva.nl

Abstract

A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.

  • CMT, Charcot-Marie-Tooth disease
  • DSS, Dejerine-Sottas syndrome
  • MNCV, motor nerve conduction velocity
  • SSCP, single strand confirmation polymorphism analysis
  • Charcot-Marie-Tooth disease
  • myelin protein zero gene
  • MPZ

https://doi.org/10.1136/jnnp.2005.073437

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    Footnotes

    • Competing interests: none declared