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Canadian Journal of Anesthesia/Journal canadien d'anesthésie

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01.11.2014 | Special Article

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference

verfasst von: Sheila Riazi, MD, Natalia Kraeva, PhD, Sheila M. Muldoon, MD, James Dowling, MD, PhD, Clara Ho, MD, Maria-Alexandra Petre, MD, Jerome Parness, MD, PhD, Robert T. Dirksen, PhD, Henry Rosenberg, MD

Erschienen in: Canadian Journal of Anesthesia/Journal canadien d'anesthésie | Ausgabe 11/2014

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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.

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Titel: Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference
verfasst von: Sheila Riazi, MD
Natalia Kraeva, PhD
Sheila M. Muldoon, MD
James Dowling, MD, PhD
Clara Ho, MD
Maria-Alexandra Petre, MD
Jerome Parness, MD, PhD
Robert T. Dirksen, PhD
Henry Rosenberg, MD
Publikationsdatum: 01.11.2014
Verlag: Springer US
Erschienen in: Canadian Journal of Anesthesia/Journal canadien d'anesthésie / Ausgabe 11/2014
Print ISSN: 0832-610X
Elektronische ISSN: 1496-8975
DOI: https://doi.org/10.1007/s12630-014-0227-5

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Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference

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