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Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept

Journal

ANESTHESIOLOGY
Volume 128, Issue 1, Pages 168-180

Publisher

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/ALN.0000000000001878

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Funding

  1. Department of Anesthesia, University of Toronto, Canada
  2. National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health grant [P01 AR052354]
  3. NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [P01AR052354] Funding Source: NIH RePORTER

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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.

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