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Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

✍ Scribed by J. Berciano; T. Sevilla; C. Casasnovas; R. Sivera; J.J. Vílchez; J. Infante; C. Ramón; A.L. Pelayo-Negro; I. Illa


Book ID
116795283
Publisher
Elsevier
Year
2012
Tongue
English
Weight
599 KB
Volume
27
Category
Article
ISSN
2173-5808

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Charcot-Marie-Tooth disease (CMT; Hereditary Motor and Sensory Neuropathy, HMSN), the most common genetic neuropathy, with an incidence of 1/2600 in Norway (Skre, 1974), has been reported in individuals on every continent. The multiple CMT disease categories result from mutations in at least eight d