Objective To investigate the clinical manifestations of a family of Charcot-Marie-Tooth (CMT) disease and the features of different gene detection methods.Methods Related clinical data were collected from 8 members of a family of CMT disease, and allele-specific PCR/double-enzyme digestion and multiplex ligation-dependent probe amplification (MLPA) were used to detect PMP22 gene mutation. A total of 60 healthy volunteers with no significant differences in sex and age were enrolled as control group.Results Ataxia, steppage gait, andclawfoot were the major clinical manifestations in this family. Five members of this family were found to have repeated sequence in the PMP22 gene by allele-specific PCR/double-enzyme digestion, among whom four members had clinical symptoms (II3, II9, II11, and III7) and one (III5) had no clinical symptoms but was found to carry repeated sequence in the PMP22 gene by gene detection. No repeated sequence was observed in the other three members and the control group.Conclusions Gene detection has an important value in clarifying the diagnosis of CMT disease, and MLPA for gene screening has the advantages of convenient and simple operation, high sensitivity, and good specificity.