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- W2896697579 endingPage "1249" @default.
- W2896697579 startingPage "1235" @default.
- W2896697579 abstract "Aim: To examine the genetic differences between subjects with statin-associated muscle symptoms and statin-tolerant controls. Materials & methods: Next-generation sequencing was used to characterize the exomes of 76 subjects with severe statin-associated muscle symptoms and 50 statin-tolerant controls. Results: 12 probably pathogenic variants were found within the RYR1 and CACNA1S genes in 16% of cases with severe statin-induced myopathy representing a fourfold increase over variants found in statin-tolerant controls. Subjects with probably pathogenic RYR1 or CACNA1S variants had plasma CK 5X to more than 400X the upper limit of normal in addition to having muscle symptoms. Conclusions: Genetic variants within the RYR1 and CACNA1S genes are likely to be a major contributor to the susceptibility to statin-associated muscle symptoms." @default.
- W2896697579 created "2018-10-26" @default.
- W2896697579 creator A5003963085 @default.
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- W2896697579 creator A5087506506 @default.
- W2896697579 date "2018-11-01" @default.
- W2896697579 modified "2023-10-12" @default.
- W2896697579 title "<i>RYR1</i> and <i>CACNA1S</i> genetic variants identified with statin-associated muscle symptoms" @default.
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- W2896697579 doi "https://doi.org/10.2217/pgs-2018-0106" @default.