Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
review · Level V
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- Record sourced from PubMed, PMID 28902675.
- Also identified by DOI 10.1097/ALN.0000000000001878 and PMC identifier 5726912.
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Abstract
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.
Medical subject headings
- Anesthesia, General
- Genomics
- Malignant Hyperthermia
- Ryanodine Receptor Calcium Release Channel