To date, applications of NGS methodologies (especially targeted gene panels of multiple genes) seem to be the best approach to adopt in the years to come in the diagnosis of congenital myopathy, as it allows lower costs and shorter times of analysis compared with traditional Sanger sequencing, especially considering the large size of genes such as NEB, TTN and RYR1. As in many NGS studies, the real challenge, however, will be to succeed in distinguishing true pathogenic mutations from population polymorphisms, and to achieve functional validation of possible new genes/ mutations. This evidence concerns the gene RYR1 and congenital myopathy with cores.