NDLI: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

Content Provider	Springer Nature Link
Author	Latour, P. Lévy, N. Paret, M. Chapon, F. Chazot, G. Clavelou, P. Couratier, P. Dumas, R. Ollagn, E. Pouget, J. Setiey, A. Vallat, J.M. Boucherat, M. Fontes, M. Vandenberghe, A.
Copyright Year	1997
Abstract	The present study reports eight additional mutations in the connexin32 gene associated with the X-linked form of Charcot-Marie-Tooth disease. One of these mutations was found twice in two apparently unrelated families. This form of the disease is demyelinating and dominant. However, patient selection for mutational screening should not be limited to these criteria since presentation can either be familial or sporadic, and some patients may be incorrectly classified as suffering from an ‘axonal’ form. These new mutations complete our previously published work on 12 other mutations and enable meaningful observation in a representative sample of the French population. Mutations are found in all regions of the gene. The most frequently observed mutations were those affecting arginines and mainly involved CpG sequences. Compared with other sources, some of the mutations were present at a higher frequency in the French population.
Starting Page	117
Ending Page	123
Page Count	7
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	1
Issue Number	2
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-11-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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