Following the advent of molecular genetics, particularly the development of next-generation sequencing, more than 80 disparate mutated genes have been associated with CMT, but only a few of them, including PMP22, GJB1, MPZ, MFN2 and NEFL, account for a significant percentage of CMT cases [1–2]. This evidence concerns the gene GJB1 and Charcot-Marie-Tooth disease.