Pathogenic or likely pathogenic variants were identified in seven of the cases (33.3%), two of whom (Cases 3 and 4) were diagnosed with CMT type 1A (CMT1A) based on the detection of heterozygous PMP22 duplications in the CNV analysis conducted on the Sophia platform, and confirmed subsequently by MLPA. Here, PMP22 is linked to Charcot-Marie-Tooth disease type 1A.