Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

Changqing Lin, Chikahiko Numakura, Tohru Ikegami, Masami Shizuka, Mikio Shoji, Garth Nicholson, Kiyoshi Hayasaka*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)

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 languageEnglish
Pages (from-to)239-244
Number of pages6
JournalTohoku Journal of Experimental Medicine
Volume188
Issue number3
Publication statusPublished - Jul 1999
Externally publishedYes

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