We found several mutations in RyR1 transmembrane region that had been previously associated to core myopathies, i.e. p.Arg4861His [66, 78], p.Thr4882Met [76], p.His4887Tyr [72], p.Ala4894Pro [81], p.Gly4897Asp [82, 83], p.Ile4898Thr [83–85], p.Gly4899Arg [85, 86], p.Ala4940Thr [78], p.Pro4973Leu [79] and p.Phe4976Leu [87]. Here, RYR1 is linked to myopathy.