Article
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
Journal of human genetics - 1 May 2013
Hayashi Makiko, Abe Akiko, Murakami Tatsufumi, Yamao Satoshi, Arai Hidee, Hattori Hideji, Iai Mizue, Watanabe Kyoko, Oka Nobuyuki, Chida Keiji, Kishikawa Yumiko, Hayasaka Kiyoshi
Abstract excerpt
Charcot-Marie-Tooth disease (CMT), the most common hereditary neuropathy, has been classified into two types, demyelinating and axonal types. We previously analyzed the genes causing dominant demyelinating CMT in 227 Japanese patients to identify the genetic background, but could not find any mutations in 110 patients. To investigate the frequency of patients with autosomal recessive demyelinating CMT (CMT4)...
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