The first is a dominant case caused by a novel p.Ile4926ins7 pathogenic variant in the well-known CCD gene RYR1. Second, we describe a novel severe form of congenital myopathy with ophthalmoplegia caused by compound heterozygous pathogenic variants in CACNA1S (p.Gln1649Glnfs*72 and p.Gln1265His). The gene discussed is RYR1; the disease is congenital myopathy.