12 research outputs found
The caffeine contracture test for malignant hyperthermia: caffeine citrate, caffeine benzoate or caffeine free base?
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Exertional heat stroke, rhabdomyolysis and susceptibility to malignant hyperthermia
No full textUnexpectedly severe exertional heat stroke and rhabdomyolysis should prompt a clinician to look for susceptibility to malignant hyperthermia. We report a case of exertional heat stroke and rhabdomyolysis in a man later determined to have the malignant hyperthermia phenotype. We review the existing literature regarding this association and suggest future research that could address areas of remaining clinical uncertainty.J. Thomas and T. Crowhurs
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia â€
No full textMutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations
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A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation
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A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees
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