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

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 Ca(2+) release from myotubes...

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Detalles Bibliográficos
Autores principales: Hoppe, Kerstin, Jurkat-Rott, Karin, Kranepuhl, Stefanie, Wearing, Scott, Heiderich, Sebastian, Merlak, Sonja, Klingler, Werner
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873245/
https://www.ncbi.nlm.nih.gov/pubmed/33564012
http://dx.doi.org/10.1038/s41598-021-82024-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873245/
https://www.ncbi.nlm.nih.gov/pubmed/33564012
http://dx.doi.org/10.1038/s41598-021-82024-7

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