RYR1 and Central core disease: Central core myopathy (CCM) is a rare (prevalence of 1–9 cases per 1,000,000) inherited congenital neuromuscular disorder caused by pathogenic variants to the gene (RYR1) that encodes the ryanodine receptor (RyR1) (Robinson et al., 2006; Jungbluth, 2007; Orphanet, 2023).