Article
Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.
Clinical genetics - 1 Aug 2001
Rueffert H, Olthoff D, Deutrich C, Froster U G
Abstract excerpt
Molecular genetic methods are used with caution for determining positive malignant hyperthermia (MH) disposition in clinical MH diagnosis because of the genetic variability of this disease. But under defined conditions, genotyping can have an advantage over the standardized in vitro contracture test (IVCT) in respect of invasive approach, specificity, patient compliance, and the work and expense involved in the...
Topics
- Caffeine
- DNA
- DNA Mutational Analysis
- Family Health
- Female
- Halothane
- Humans
- Male
- Malignant Hyperthermia
- Muscle Contraction
- Muscle, Skeletal
- Mutation, Missense
- Pedigree
- Phenotype
- Ryanodine Receptor Calcium Release Channel