Second, we cannot exclude to have missed some RYR1 variants because of some intrinsically pitfalls in Sanger sequencing (i.e. the quality of sequence in the first 15 to 40 bases where the primers bind, or quality of sequencing in long reads, etc.), and finally, RYR1 Sanger sequencing does not allow to look for mutations in other known genes possibly involved in core myopathies. Here, RYR1 is linked to myopathy.