Article
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.
Neurology - 1 Aug 1994
Ptáĉek L J, Tawil R, Griggs R C, Meola G, McManis P, Barohn R J, Mendell J R, Harris C, Spitzer R, Santiago F
Abstract excerpt
Hyperkalemic periodic paralysis (hyperKPP) and paramyotonia congenita (PC) are genetic muscle disorders sharing the common features of myotonia and episodic weakness. In hyperKPP, patient symptoms and signs are worsened by elevated serum potassium, whereas in PC, muscle cooling exacerbates the co...
Topics
- Acetazolamide
- Autoradiography
- Base Sequence
- Female
- Humans
- Hyperkalemia
- Male
- Molecular Sequence Data
- Mutation
- Myotonia Congenita
- Nucleic Acid Conformation
- Paralyses, Familial Periodic
- Polymerase Chain Reaction
- Sodium Channels