Interestingly, 5/44 patients had pathogenic or likely pathogenic variants in NMD genes other than CMD: one variant in the HSPG2 gene related to Shwartz-Jampell syndrome, one variant in the GDAP gene related to hereditary sensory motor neuropathy, and one in SIGMAR1 gene related to distal spinal muscular atrophy. This evidence concerns the gene HSPG2 and X-linked distal spinal muscular atrophy type 3.