Cargando…
Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia
BACKGROUND: Malignant hyperthermia (MH) is a dominantly inherited skeletal muscle disorder that can cause a fatal hypermetabolic reaction to general anaesthetics. The primary locus of MH (MHS1 locus) in humans is linked to chromosome 19q13.1, the position of the gene encoding the ryanodine receptor...
Autores principales: | Grievink, Hilbert, Stowell, Kathryn M |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895584/ https://www.ncbi.nlm.nih.gov/pubmed/20482855 http://dx.doi.org/10.1186/1750-1172-5-10 |
Ejemplares similares
-
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
por: Parker, Remai, et al.
Publicado: (2017) -
Malignant hyperthermia
por: Rosenberg, Henry, et al.
Publicado: (2007) -
Malignant hyperthermia: a review
por: Rosenberg, Henry, et al.
Publicado: (2015) -
Effects of Remimazolam and Propofol on Ca(2+) Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation
por: Watanabe, Tomoyuki, et al.
Publicado: (2021) -
A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy
por: Jeong, Seul-Ki, et al.
Publicado: (2008)