Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance

Abstract Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterized by generalized muscle rigidity, increased body temperature, rhabdomyolysis, hyperkalemia and severe metabolic acidosis. The underlying mechanism of MH involves excessive Ca2+ release from m...

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Autores principales: Kerstin Hoppe, Karin Jurkat-Rott, Stefanie Kranepuhl, Scott Wearing, Sebastian Heiderich, Sonja Merlak, Werner Klingler
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/dc483e7be68a43b397567e7004957a46
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