In our cohort, muscular and metabolic tests (acylcarnitine, plasmatic aminoacid-gram, and NGS myopathies panel) were performed in 9.2% of patients; the NGS panel allowed the diagnosis of neuromuscular disorders in two cases, one with LGMD1 and the other with RYR1 pathogenic variant for hyperthermia maligna. This evidence concerns the gene RYR1 and myopathy.