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Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.
White R, Schiemann AH, Burling SM, Bjorksten A, Bulger T, Gillies R, Hopkins PM, Kamsteeg EJ, Machon RG, Massey S, Miller D, Perry M, Snoeck MMJ, Stephens J, Street N, van den Bersselaar LR, Stowell KM. White R, et al. Among authors: burling sm. Br J Anaesth. 2022 Dec;129(6):879-888. doi: 10.1016/j.bja.2022.08.029. Epub 2022 Oct 6. Br J Anaesth. 2022. PMID: 36208971 Free article.
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia.
van den Bersselaar LR, Greven T, Bulger T, Voermans NC, van Petegem F, Schiemann AH, Parker R, Burling SM, Jungbluth H, Stowell KM, Kamsteeg EJ, Snoeck MMJ. van den Bersselaar LR, et al. Among authors: burling sm. Br J Anaesth. 2021 Aug;127(2):e63-e65. doi: 10.1016/j.bja.2021.05.008. Epub 2021 Jun 12. Br J Anaesth. 2021. PMID: 34127251 Free article. No abstract available.