Article
Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations.
Neuromuscular disorders : NMD - 1 Jan 1992
Deufel T, Müller-Felber W, Pongratz D E, Hübner G, Johnson K, Iaizzo P A, Lehmann-Horn F
Abstract excerpt
Malignant hyperthermia (MH) is a pharmacogenetic myopathy triggered by a variety of anaesthetic agents and muscle relaxants. In humans, susceptibility to MH is inherited as an autosomal dominant trait, and susceptible patients do not show a clinically relevant myopathy unless having suffered from...
Topics
- Child, Preschool
- Chronic Disease
- Creatine Kinase
- Disease Susceptibility
- Female
- Humans
- In Vitro Techniques
- Malignant Hyperthermia
- Muscle Contraction
- Muscles
- Muscular Diseases
- Mutation
- Pedigree