Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

A Merritt,P Booms,M-A Shaw, D M Miller,C Daly, J G Bilmen,K M Stowell,P D Allen,D S Steele,P M Hopkins

British Journal of Anaesthesia（2017）

引用 19|浏览15

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摘要

. Segregation analysis is of limited value in assessing pathogenicity of RYR1 variants in malignant hyperthermia. Functional analyses in HEK293 cells provided evidence to support the use of p.R2336H, p.R2355W, p.E3104K, p.G3990V and p.V4849I for diagnostic purposes but not p.D3986E.

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关键词

malignant hyperthermia, genetics,malignant hyperthermia, diagnosis,malignant hyperthermia, physiopathology,HEK293 cells,calcium signaling,RYR1

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