Article
Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.
British journal of anaesthesia - 1 Jan 2026
Schiemann Anja H, Burling Sophie M, Allen Remai, Bulger Terasa, Machon Roslyn G, Perry Margaret, Street Neil, van den Bersselaar Luuk R, Stowell Kathryn M
Abstract excerpt
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 pathogenic. For this, variants must meet a range of criteria, one of which is functional analysis in an approved system that demonstrates hypersensitivity of calcium release...
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