In order to investigate the clinical， electrophysiological， and genetic features of two families with Charcot-Marie-Tooth disease （CMT）， this study collected the clinical data， electrophysiological data， whole blood， and DNA of the probands and their relatives in the two families， and the pedigree analysis and CMT-related gene detection were performed. Family 1 was found to have autosomal dominant inheritance， and MLPA test of the proband showed repeated amplification of the PMP22 gene； gene sequencing did not reveal mutations in other CMT-related genes； further detection found repeated amplification of the PMP22 gene in three relatives of the proband， which was not found in the uncles without the disease. Family 2 was found to have autosomal recessive inheritance； the proband carried two heterozygous mutations of the SH3TC2 gene， i.e.， c.730C>T p.Q244X and c.432C>G p.Y144X， and each of the proband’s parents carried one of the two mutations. Therefore， Family 1 was diagnosed with CMT1A and Family 2 was diagnosed with CMT4C. The association between gene and phenotype should be taken seriously in clinical practice.