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Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

13 Jun 2022

Abstract excerpt

Exertional heat illness (EHI) and malignant hyperthermia (MH) are life threatening conditions associated with muscle breakdown in the setting of triggering factors including volatile anesthetics, exercise, and high environmental temperature. To identify new genetic variants that predispose to EHI and/or MH, we performed genomic sequencing on a cohort with EHI/MH and/or abnormal caffeine-halothane contracture...

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PMID: 35697689
DOI: 10.1038/s41467-022-31088-8

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