Cargando…
Functional analysis of RYR1 variants linked to malignant hyperthermia
Malignant hyperthermia manifests as a rapid and sustained rise in temperature in response to pharmacological triggering agents, e.g. inhalational anesthetics and the muscle relaxant suxamethonium. Other clinical signs include an increase in end-tidal CO(2), increased O(2) consumption, as well as tac...
Autores principales: | Stephens, Jeremy, Schiemann, Anja H., Roesl, Cornelia, Miller, Dorota, Massey, Sean, Pollock, Neil, Bulger, Terasa, Stowell, Kathryn |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964997/ https://www.ncbi.nlm.nih.gov/pubmed/27857962 http://dx.doi.org/10.1080/23328940.2016.1153360 |
Ejemplares similares
-
Malignant hyperthermia: a review
por: Rosenberg, Henry, et al.
Publicado: (2015) -
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
por: Parker, Remai, et al.
Publicado: (2017) -
Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants
por: Stowell, Kathryn, et al.
Publicado: (2014) -
Malignant hyperthermia
por: Rosenberg, Henry, et al.
Publicado: (2007) -
Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Classifications in Malignant Hyperthermia Susceptibility
por: Johnston, Jennifer J., et al.
Publicado: (2021)