WES revealed a class 5 heterozygous variant in the MYOT gene (NM_006790.2: c.179C>T; p.Ser60Phe), which is highly conserved (phyloP100: 5.433), has a low frequency in large databases, including gnmoAD (0.0 000 157) and predicted pathogenic in some in silico analysis, BayesDel addAF (0.1912), confirming another double hit genetic disorder with a superimposed late onset myofibrillar myopathy related to MYOT gene on top of CMT1A. This evidence concerns the gene PMP22 and hereditary disease.