Autosomal Recessive Charcot-Marie-Tooth Neuropathy

  • Carmen EspinósEmail author
  • Eduardo Calpena
  • Dolores Martínez-Rubio
  • Vincenzo Lupo
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 724)


Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.


Amyotrophic Lateral Sclerosis Autosomal Recessive Inheritance Axonal Neuropathy Autosomal Recessive PMP22 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Carmen Espinós
    • 1
    Email author
  • Eduardo Calpena
    • 1
    • 2
  • Dolores Martínez-Rubio
    • 1
    • 2
  • Vincenzo Lupo
    • 1
    • 2
  1. 1.Unit 732Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)ValenciaSpain
  2. 2.Unit of Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia (IBV)CSICValenciaSpain

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