Here, we report a 26-year-old male Chinese patient with general weakness, peroneal atrophy, nerve conduction was not elicited in electromyography (EMG) study, deformities in the extremities, and other CMT3 phenotypes, with a novel heterozygous mutation (NM_153322, c.54_55insGTGCTG, p.(L19delinsVLL)) of PMP22. This previously unreported mutation might be associated with early onset and severe demyelination in CMT. This evidence concerns the gene PMP22 and Charcot-Marie-Tooth disease.