In this study, we conducted an extensive survey for the mutations in the MFN2, RAB7, TRPV4, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, DNM2, AARS and YARS genes in 36 unrelated patients with CMT2 and identified 10 different mutations in 14 patients (10/36; 38.9% of our cohort). The gene discussed is NEFL; the disease is Charcot-Marie-Tooth disease type 2.