Article
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Orphanet journal of rare diseases - 16 Jan 2014
Klingler Werner, Heiderich Sebastian, Girard Thierry, Gravino Elvira, Heffron James Ja, Johannsen Stephan, Jurkat-Rott Karin, Rüffert Henrik, Schuster Frank, Snoeck Marc, Sorrentino Vincenzo, Tegazzin Vincenzo, Lehmann-Horn Frank
Abstract excerpt
BACKGROUND: Malignant hyperthermia (MH) is a rare pharmacogenetic disorder which is characterized by life-threatening metabolic crises during general anesthesia. Classical triggering substances are volatile anesthetics and succinylcholine (SCh). The molecular basis of MH is excessive release of Ca2+ in skeletal muscle principally by a mutated ryanodine receptor type 1 (RyR1). To identify factors explaining the...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Malignant Hyperthermia
- Middle Aged
- Mutation
- Ryanodine Receptor Calcium Release Channel
- Succinylcholine