British journal of anaesthesiaHumansMalignant HyperthermiaRyanodine Receptor Calcium Release ChannelNew ZealandMale
Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.
Anja H Schiemann, Sophie M Burling, Remai Allen, Terasa Bulger, Roslyn G Machon, Margaret Perry, Neil Street, Luuk R van den Bersselaar, Kathryn M Stowell
Published: 202610.1016/j.bja.2025.10.025
Abstract
BACKGROUND: Muscle biopsy and in vitro contracture testing remain the gold standard for presymptomatic diagnosis of malignant hyperthermia susceptibility. DNA analysis can be used when a familial variant is classified as pathogenic or likely pathogen…
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