Objective To study the values of clinical features, gene assay, pathological examination, and electrophysiological examination in the diagnosis of Charcot-Marie-Tooth disease (CMT).Methods The clinical data of 50 patients with CMT were collected. Electromyography and sural nerve biopsy were performed, and PCR and gene sequencing were performed for gene mutation analysis. Results Forty cases showed decreases in the motor conduction velocity (MCV) and sensory conduction velocity (SCV) in the lower extremities (15-28 m/s for the tibial and peroneal nerves; 12-30 m/s for the sural nerve), and 10 cases had no response potential in the lower extremities. All the 50 cases showed decreases in the MCV and SCV of the median nerve (19-48 m/s and 20-52 m/s, respectively). The decrease in nerve conduction velocity was not parallel with clinical manifestations in patients with CMT. Sural nerve biopsy displayed chronic demyelination and axon degeneration. Genetic analysis of PMP22, Cx32, MPZ, MFN2, and GDAP1 showed large fragment repeat mutations of PMP22 in 14 patients (28%), as well as point mutations of Cx32, MPZ, and MFN2 in 13, 4, and 3 patients (26%, 8%, and 6%), respectively; no GDAP1 mutation was found; mutations in the above genes were not detected in 16 patients.Conclusions Electrophysiological, pathological, and genetic examinations are useful in the diagnosis and typing of CMT.