Article
[In vitro contracture test and gene typing in diagnosing malignant hyperthermia. Each as an appropriate complement to the other method].
Der Anaesthesist - 1 Feb 2000
Rüffert H, Olthoff D, Deutrich C, Thamm B, Froster U
Abstract excerpt
BACKGROUND: Malignant hyperthermia (MH) is an autosomal dominantly inherited disorder, triggered in susceptible individuals by inhalation anesthetics and depolarizing muscle relaxants such as succinylcholine. Because of its high sensitivity (97-99%) and specificity (93.6%) as well as the genetic heterogeneity of MH disorder, the in vitro contracture test (IVCT) following the European-MH-Group is considered to be...
Topics
- Amino Acid Substitution
- Electrophoresis, Agar Gel
- Humans
- Malignant Hyperthermia
- Muscle Contraction
- Muscle, Skeletal
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Ryanodine Receptor Calcium Release Channel