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The RYR1 biobank is part of a study of the neuromuscular and multisystem features of patients with malignant hyperthermia or rhabdomyolysis related to RYR1 (ryanodine receptor type 1) variants. The main objective of the RYR1 biobank is to enable research into genetic causes and pathophysiological mechanisms, with identification of starting points for therapy. The biobank contains biomaterial (serum, heparin plasma, DNA, RNA and tissue) and clinical data from both children and adult patients.
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