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Table of Contents
Vol. 21, No. 5, 2002
Issue release date: September – October
Section title: Original Paper
Neuroepidemiology 2002;21:246–250
(DOI:10.1159/000065643)

An Epidemiological Genetic Study of Charcot-Marie-Tooth Disease in Western Japan

Kurihara S.a · Adachi Y.a · Wada K.a · Awaki E.b · Harada H.c · Nakashima K.a
aDepartment of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, bDepartment of Neurology, Saiseikai General Hospital, Sakaiminato, and cDepartment of Neurology, San-in Rousai Hospital, Yonago, Japan

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: August 30, 2002
Issue release date: September – October

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 2

ISSN: 0251-5350 (Print)
eISSN: 1423-0208 (Online)

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

Abstract

We identify the prevalence and genetic features of Charcot-Marie-Tooth disease (CMT) in Yonago and Sakaiminato, western Japan. From information in registered records and questionnaires, definite or candidate CMT patients were examined. Eleven families with 19 patients (7 female and 12 male) were identified and the prevalence was 10.8 per 100,000 in April 2000. Eleven patients in 6 families showed a Thr124Met mutation of the MPZ gene, in 2 families duplication of the PMP22 gene was suggested and no abnormalities were found in 2 families. To identify the occurrence of mildly affected CMT, the exhaustive region-matched and family study was necessary.

© 2002 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: August 30, 2002
Issue release date: September – October

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 2

ISSN: 0251-5350 (Print)
eISSN: 1423-0208 (Online)

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


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