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

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.

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

Demande d'une copie

ID Serval

serval:BIB_FD501CFC7141

Type

Article: article d'un périodique ou d'un magazine.

Collection

Publications

Institution

UNIL/CHUV

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⸱e⸱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

Numéro

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

OAI-PMH

oai:serval.unil.ch:BIB_FD501CFC7141

Pubmed

8800924

Web of science

A1996UA94000006

Création de la notice

25/01/2008 13:43

Dernière modification de la notice

20/08/2019 17:28

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SERVAL

serveur académique lausannois

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