Deletion and Nonsense Mutations of the Connexin 32 Gene Associated with Charcot-Marie-Tooth Disease.
- 1 January 1999
- journal article
- case report
- Published by Tohoku University Medical Press in The Tohoku Journal of Experimental Medicine
- Vol. 188 (3) , 239-244
- https://doi.org/10.1620/tjem.188.239
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.Keywords
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