RYR1 and lethal multiple pterygium syndrome: RYR1 variants have subsequently been identified in various myopathies including central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM), congenital fiber-type disproportion (CFTD), core-rod myopathy (CRM), King-Denborough syndrome, dusty core disease (DuCD), samaritan myopathy, a late-onset axial myopathy, fetal akinesia and lethal multiple pterygium syndrome (LMPS) [4–9].