Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.
| Author | |
|---|---|
| Abstract | :
The aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility. |
| Year of Publication | :
2018
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| Journal | :
Journal of anesthesia
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| Date Published | :
2018
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| ISSN Number | :
0913-8668
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| URL | :
https://dx.doi.org/10.1007/s00540-018-2451-6
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| DOI | :
10.1007/s00540-018-2451-6
|
| Short Title | :
J Anesth
|
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