In this study, we enrolled 67 patients and applied a diagnostic protocol including multiple ligation-dependent probe amplification (MLPA) for copy number variation (CNV) detection of PMP22 locus, and next-generation sequencing (NGS) for sequencing of 47 genes known to be associated with CMT and routinely screened in medical genetics. The gene discussed is PMP22; the disease is Charcot-Marie-Tooth disease.