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Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication

  • José BercianoEmail author
  • Antonio García
  • Elena Gallardo
  • César Ramón
  • Onofre Combarros
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 652)

Abstract

In this paper we revise the phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A). We mainly focus on four phenotypic hallmarks: (i) “classic” phenotype, as currently observed in proband patients; (ii) evolution of mild phenotype of secondary cases in infancy and early childhood; (iii) proximal lower-limb musculature involvement as a late phenotypic feature; and (iv) minimal adult phenotype. We also briefly revise genetic, electrophysiological, pathological and neuroimaging data of the disease.

Keywords

Axon Axonal degeneration Charcot-Marie-Tooth disease Demyelination Magnetic resonance imaging Myelin Nerve conduction study Phenotype 17p11.2 duplication 

Notes

Acknowledgements

Supported by CIBERNED and FIS Grant PI07/1323E.

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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • José Berciano
    • 1
    Email author
  • Antonio García
    • 1
  • Elena Gallardo
    • 1
  • César Ramón
    • 1
  • Onofre Combarros
    • 1
  1. 1.Service of Neurology, Clinical Neurophysiology and RadiologyUniversity Hospital “Marqués de Valdecilla”, University of Cantabria, CIBERNED and IFIMAVSantanderSpain

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