RYR1 and myofibrillar myopathy 3: 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.