Key result
Malignant hyperthermia is linked to mutations in the ryanodine receptor gene (RYR1), with a single mutation responsible in swine but genetic heterogeneity observed in humans.
Population
Humans and swine genetically predisposed to malignant hyperthermia
Design
Review
Authors
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Genetic testing for MH susceptibility warrants caution given human heterogeneity; leaves open full variant characterization.
Malignant hyperthermia is linked to mutations in the ryanodine receptor gene (RYR1), though the genetic basis in humans is heterogeneous compared to a single founder mutation in swine.
MacLennan et al. (1992) conducted a review in Malignant hyperthermia. Malignant hyperthermia is linked to mutations in the ryanodine receptor gene (RYR1), with a single mutation responsible in swine but genetic heterogeneity observed in humans.
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