Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.
作者信息
Lin C, Numakura C, Ikegami T, Shizuka M, Shoji M, Nicholson G, Hayasaka K
机构信息
Department of Pediatrics, Yamagata University School of Medicine, Japan.
出版信息
Tohoku J Exp Med. 1999 Jul;188(3):239-44. doi: 10.1620/tjem.188.239.
PMID:10587015
Abstract
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.
摘要
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