Article
BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis.
European journal of anaesthesiology - 1 Jul 2021
Gonzalez Asensio, Girard Thierry, Dell-Kuster Salome, Urwyler Albert, Bandschapp Oliver
Abstract excerpt
BACKGROUND: Ryanodine receptor type 1 (RYR1) sequence variants are pathogenic for malignant hyperthermia. Variant carriers have a subtle increase in resting myoplasmic calcium concentration compared with nonaffected individuals, but whether this has metabolic effects in daily life is unknown. OBJECTIVES: We analysed the potential effect of malignant hyperthermia-pathogenic RYR1 sequence variants on BMI as a...
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