Ontology highlight
ABSTRACT:
INSTRUMENT(S): TripleTOF 6600
ORGANISM(S): Danio Rerio (ncbitaxon:7955) Homo Sapiens (ncbitaxon:9606)
SUBMITTER: Karen Colwill
PROVIDER: MSV000089417 | MassIVE | Wed May 04 08:23:00 BST 2022
SECONDARY ACCESSION(S): PXD033578
REPOSITORIES: MassIVE
Nature communications 20220613 1
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 test. In five individuals, we identified rare, pathogenic heterozygous variants in ASPH, ...[more]