title: Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.
abstract: The Malignant Hyperthermia Association of the United States and the Department of Anesthesia at the University of Toronto sponsored a Scientific Conference on November 1-2, 2013 in Toronto, ON, Canada. The multidisciplinary group of experts, including clinicians, geneticists, and physiologists involved in research related to malignant hyperthermia (MH), shared new insights into the pathophysiology of diseases linked to the type-1 ryanodine receptor gene (RYR1) as well as the relationship between MH and "awake MH" conditions, such as exertional rhabdomyolysis and exertional heat illness. In addition, the molecular genetics of MH and clinical issues related to the diagnosis and management of disorders linked to RYR1 were presented. The conference also honoured Dr. David H. MacLennan for his contributions to our understanding of the genetics, pathogenesis, and treatment of MH and other RYR1-related myopathies. This report represents a summary of the proceedings of this conference.
authors.affiliation: Malignant Hyperthermia Investigation Unit, Toronto General Hospital, UHN, 200 Elizabeth Street, Eaton 3-323, Toronto, ON, M5G 2C4, Canada, Sheila.Riazi@uhn.ca.
authors.forename: Sheila
authors.initials: S
authors.lastname: Riazi
authors.forename: Natalia
authors.initials: N
authors.lastname: Kraeva
authors.forename: Sheila M
authors.initials: SM
authors.lastname: Muldoon
authors.forename: James
authors.initials: J
authors.lastname: Dowling
authors.forename: Clara
authors.initials: C
authors.lastname: Ho
authors.forename: Maria-Alexandra
authors.initials: MA
authors.lastname: Petre
authors.forename: Jerome
authors.initials: J
authors.lastname: Parness
authors.forename: Robert T
authors.initials: RT
authors.lastname: Dirksen
authors.forename: Henry
authors.initials: H
authors.lastname: Rosenberg
mesh_terms: D014644:Genetic Variation; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel