- Tytuł:
- Molecular basis of malignant hyperthermia
- Autorzy:
-
Gronek, P
Slomski, R - Powiązania:
- https://bibliotekanauki.pl/articles/2046685.pdf
- Data publikacji:
- 1997
- Wydawca:
- Polska Akademia Nauk. Czytelnia Czasopism PAN
- Tematy:
-
calcium release
ryanodine receptor
depolarization
polymorphism
ryanodine gene
chromosome
metabolism
man
clinical syndrome
central core disease
phenotypic effect
malignant hyperthermia
anesthesia
skeletal muscle - Opis:
- Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two arc alternatively spliced.
- Źródło:
-
Journal of Applied Genetics; 1997, 38, 3; 309-317
1234-1983 - Pojawia się w:
- Journal of Applied Genetics
- Dostawca treści:
- Biblioteka Nauki
Artykuł