Novel Mutation in GJB1 Gene Shown to Cause CMTX in Chinese Family
A novel mutation in the GJB1 gene was found to cause X-linked Charcot-Marie-Tooth disease (CMT) in a new study. “Our results expand the spectrum of mutations in GJB1 known to be associated with [X-linked CMT] and contribute to the diagnosis of CMT and clinical genetic counseling,” the researchers wrote. The…