Article
MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
Molecular genetics & genomic medicine - 1 Apr 2022
Hao Xiaoyan, Li Chong, Lv Yunguo, Zhou Tongtong, Tian Hao, Ma Yaru, Ding Jiangwei, Li Xinxiao, Wang Yangyang, Wang Lei, Yang Ping
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a hereditary monogenic peripheral nerve disease. Variants in the gene encoding myelin protein zero (MPZ) lead to CMT, and different variants have different clinical phenotypes. A variant site, namely, c.389A > G (p.Lys130Arg), in the MPZ gene has been found in Chinese people. The pathogenicity of this variant has been clarified through pedigrees, and peripheral...
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