Molecular analysis in Japanese patients
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Chikahiko Numakura; Changqing Lin; Tohru Ikegami; Per Guldberg; Kiyoshi Hayasaka
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Article
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2002
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John Wiley and Sons
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English
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Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder and is traditionally classified into two major types, CMT type 1 (CMT1) and CMT type 2 (CMT2). Most CMT1 patients are associated with the duplication of 17p11.2-p12 (CMT1A duplication) and small numbers of patients have mutations of the p