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.
Original language | English |
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Pages (from-to) | 239-244 |
Number of pages | 6 |
Journal | Tohoku Journal of Experimental Medicine |
Volume | 188 |
Issue number | 3 |
Publication status | Published - Jul 1999 |
Externally published | Yes |