The results of this study on a Norwegian population of CMT patients identified one pathogenic PMP22 duplication that was not previously detected by real-time PCR and three potentially pathogenic CNVs, of which the deletion of LAMA2 was considered to be likely pathogenic and the duplication of CNTNAP2 and deletion of SEMA5A were considered to be potentially pathogenic. Here, PMP22 is linked to Charcot-Marie-Tooth disease.