Article
Familial cramp due to potassium-aggravated myotonia.
Journal of neurology, neurosurgery, and psychiatry - 1 Oct 1998
Orrell R W, Jurkat-Rott K, Lehmann-Horn F, Lane R J
Abstract excerpt
Clinical, electrophysiological, and molecular genetic features were investigated in two patients from a family a with dominantly inherited myotonic disease, characterised by painful cramps, stiffness without weakness, fluctuation of symptoms, and cold sensitivity. A reduction in amplitude of the...
Topics
- Adult
- DNA Mutational Analysis
- Electromyography
- Heterozygote
- Humans
- Muscle Cramp
- Muscle, Skeletal
- Myotonia
- Neural Conduction
- Pedigree
- Phenotype
- Point Mutation
- Potassium Channels