Cq. Lin et al., Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease, TOH J EX ME, 188(3), 1999, pp. 239-244
Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disea
se 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 1
32 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 C
harcot-Marie-Tooth disease.