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Table of Contents
Vol. 37, No. 1, 1997
Issue release date: 1997
Section title: Original Paper
Eur Neurol 1997;37:38–42
(DOI:10.1159/000117403)

New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease

Latour P. · Fabreguette A. · Ressot C. · Blanquet-Grossard F. · Antoine J.-C. · Calvas P. · Chapon F. · Corbillon E. · Ollagnon E. · Sturtz F. · Boucherat M. · Chazot G. · Dautigny A. · Pham-Dinh D. · Vandenberghe A.
aLaboratoire de Neurogénétique Moléculaire, Hôpital de L’Antiquaille, yon; bURA 1488 CNRS, Université Pierre et Marie Curie, Paris; cService de Neurologie, Hôpital de Bellevue, Saint-Etienne; dService de Génétique, Hôpital Purpan, Toulouse; eService de Neurologie, CHRU de Caen; fService de Neurologie, Hôpital Nord, Amiens; gService de Génétique, Hôtel Dieu, Lyon; hService de Neurologie, Hôpital Neurologique, Lyon, France

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 2/16/1996
Accepted: 5/31/1996
Published online: 2/14/2008

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0

ISSN: 0014-3022 (Print)
eISSN: 1421-9913 (Online)

For additional information: http://www.karger.com/ENE

Abstract

Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of this form is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra-and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 2/16/1996
Accepted: 5/31/1996
Published online: 2/14/2008

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0

ISSN: 0014-3022 (Print)
eISSN: 1421-9913 (Online)

For additional information: http://www.karger.com/ENE


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