Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Remai Parker,Anja H Schiemann,Elaine Langton,Terasa Bulger,Neil Pollock,Andrew Bjorksten,Robyn Gillies,David Hutchinson,Richard Roxburgh,Kathryn M Stowell

Journal of neuromuscular diseases（2017）

引用 6|浏览16

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摘要

The p.Val4849Ile variant should be considered a risk factor for malignant hyperthermia, while the p.Phe4857Ser and p.Asp4918Asn variants should be classified as pathogenic for central core disease.

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关键词

Central core disease,calcium release channel,malignant hyperthermia,ryanodine receptor,skeletal muscle

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