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

页码：239 / 244

页数：6

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