RYR1 and glycogen storage disease VI: Molecular genetic confirmation of the diagnosis is possible by mutational analysis of the RYR1 gene; diagnostic RYR1 screening has been established for malignant hyperthermia patients by a number of laboratories associated with the European Malignant Hyperthermia Group (EMHG) [104] but does require a modified approach for patients with central core disease as many CCD-related RYR1 mutations do not localise to known MH hotspots.