Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

被引：19
作者：
Lin, CQ
Numakura, C
Ikegami, T
Shizuka, M
Shoji, M
Nicholson, G
Hayasaka, K
机构：
[1] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 9909585, Japan
[2] Gunma Univ, Sch Med, Dept Neurol, Maebashi, Gumma 3710034, Japan
[3] Univ Sydney, Mol Med Lab, Sydney, NSW, Australia
来源：
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE | 1999年 / 188卷 / 03期
关键词：
Charcot-Marie-Tooth disease; X-linked Charcot-Marie Tooth disease; connexin; 32; gene deletion; gene mutation;
D O I：
10.1620/tjem.188.239
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.
引用
收藏
页码：239 / 244
页数：6
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