Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Détails

ID Serval
serval:BIB_FD501CFC7141
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Périodique
European Journal of Human Genetics
Auteur(s)
Nelis E., Van Broeckhoven C., De Jonghe P., Löfgren A., Vandenberghe A., Latour P., Le Guern E., Brice A., Mostacciuolo M.L., Schiavon F., Palau F., Bort S., Upadhyaya M., Rocchi M., Archidiacono N., Mandich P., Bellone E., Silander K., Savontaus M.L., Navon R., Goldberg-Stern H., Estivill X., Volpini V., Friedl W., Zerres K., Tyson J., Malcolm S., Holmberg B., Holmgren G., Mariman E.C.M., Gabreëls-Festen A.A.W.M., Yapijakis C., Vassilopoulos D., Clark C., Haites N., Hilbert P., Van Maldergem L., Rautenstrauss B., Grehl H., Mountford R., Mann K., Bettecken T., Burgunder J.M., Hanemann C.O., Müller H.W., Hertz J.M., Schorderet D.F., Küntzer T., Wolf C., Kunert E., Muntoni F., Emmerick-Bock P., Orth U., Gal A.
ISSN
1018-4813
Statut éditorial
Publié
Date de publication
1996
Peer-reviewed
Oui
Volume
4
Numéro
1
Pages
25-33
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17p11.2, 1q21-q23 and Xq13.1, respectively. In 70.7% of 819 unrelated CMT1 patients, the 17p11.2 duplication was present. In 84.0% of 156 unrelated HNPP patients, the 17p11.2 deletion was present. In the nonduplicated CMT1 patients, several different mutations were identified in the myelin genes PMP22, MPZ and Cx32.
Mots-clé
Charcot-Marie-Tooth Disease/epidemiology, Charcot-Marie-Tooth Disease/genetics, Chromosomes, Human, Pair 17, Connexins/genetics, Europe, Gene Deletion, Gene Frequency, Genetic Screening, Hereditary Motor and Sensory Neuropathies/epidemiology, Hereditary Motor and Sensory Neuropathies/genetics, Humans, Multigene Family, Mutation, Myelin P0 Protein/genetics, Myelin Proteins/genetics, X Chromosome
Pubmed
Web of science
Création de la notice
25/01/2008 12:43
Dernière modification de la notice
20/08/2019 16:28
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