Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept
| Autor: | Riazi, S, Kraeva, N, Hopkins, PM |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| ISSN: | 0003-3022 |
| Popis: | This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia. |
| Databáze: | OpenAIRE |
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