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A Woman Who Could Not Wear High Heels

  • Mohamed Mahdi-Rogers
  • Matilde Laurá
  • Mary M. Reilly
Chapter

Abstract

A 44 year old woman with a positive family history for neuromuscular disease, presents with a slowly progressive peripheral neuropathy, found to be demyelinating on neurophysiology. Genetic testing confirms the diagnosis.

Keywords

Charcot Marie Tooth disease Chromosome 17 duplication PMP22 

References

  1. Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011;16:1–14.CrossRefPubMedGoogle Scholar
  2. Rossor AM, Murphy S, Reilly MM. Knee bobbing in Charcot-Marie-Tooth disease. Pract Neurol. 2012;12(3):182–3.Google Scholar
  3. Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2013;9:562–71.Google Scholar

Copyright information

© Springer-Verlag London Ltd. 2017

Authors and Affiliations

  • Mohamed Mahdi-Rogers
    • 1
  • Matilde Laurá
    • 2
  • Mary M. Reilly
    • 2
  1. 1.Department of NeurologyKing’s College HospitalLondonUK
  2. 2.MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and NeurosurgeryLondonUK

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