Population
30 Australian malignant hyperthermia susceptible probands with positive in vitro contracture tests, in whom…
Design
Cross-sectional
Authors
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Novel MH variants in calcium-trafficking genes remain hypothesis-generating; larger validation cohorts needed before updating diagnostic panels.
Identified four rare variants in calcium handling genes in MH susceptible patients without RYR1/CACNA1S mutations, providing targets for future functional studies.
Bjorksten et al. (2016) studied this question.
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