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Adv Exp Med Biol. 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5.

Autosomal recessive Charcot-Marie-Tooth neuropathy.

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Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain.


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.

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