Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication

Adv Exp Med Biol. 2009;652:183-200. doi: 10.1007/978-90-481-2813-6_12.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Gene Duplication*
  • Humans
  • Leg / pathology
  • Phenotype