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Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

✍ Scribed by Sylvia Bort; E. Nelis; Vincent Timmerman; Teresa Sevilla; Antonio Cruz-Martínez; Francisco Martínez; José M. Millán; Javier Arpa; Juan J. Vílchez; Felix Prieto; Christine Van Broeckhoven; F. Palau


Publisher
Springer
Year
1997
Tongue
English
Weight
105 KB
Volume
99
Category
Article
ISSN
0340-6717

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Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder and is traditionally classified into two major types, CMT type 1 (CMT1) and CMT type 2 (CMT2). Most CMT1 patients are associated with the duplication of 17p11.2-p12 (CMT1A duplication) and small numbers of patients have mutations of the p