Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.

Ruth White,Anja H Schiemann,Sophie M Burling,Andrew Bjorksten,Terasa Bulger,Robyn Gillies,Philip M Hopkins,Erik-Jan Kamsteeg,Roslyn G Machon,Sean Massey,Dorota Miller,Margaret Perry,Marc M J Snoeck,Jeremy Stephens,Neil Street,Luuk R van den Bersselaar,Kathryn M Stowell

British journal of anaesthesia（2022）

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摘要

Three (p.Tyr1711Cys, p.Val2280Ile, and p.Arg4737Gln) additional variants can be added to the list of RYR1 disease-associated variants managed by the European Malignant Hyperthermia Group. These can therefore be used diagnostically in the future. Three variants (p.Glu2348Gly, p.Asn2634Lys, and p.Arg3629Trp) that remained classified as of uncertain significance require further family studies or a different functional test to determine clinical relevance in malignant hyperthermia.

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关键词

calcium release assay,malignant hyperthermia,next-generation sequencing,pre-symptomatic diagnosis,ryanodine receptor

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