Article
Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na+ channel.
The American journal of physiology - 1 Jan 1999
Rojas C V, Neely A, Velasco-Loyden G, Palma V, Kukuljan M
Abstract excerpt
Mutations in the human skeletal muscle Na+ channel underlie the autosomal dominant disease hyperkalemic periodic paralysis (HPP). Muscle fibers from affected individuals exhibit sustained Na+ currents thought to depolarize the sarcolemma and thus inactivate normal Na+ channels. We expressed human...
Topics
- Animals
- Electric Conductivity
- Female
- Homeostasis
- Humans
- Hyperkalemia
- Ion Channel Gating
- Muscle, Skeletal
- Mutation
- Oocytes
- Paralysis
- Patch-Clamp Techniques
- Periodicity
- Reference Values
- Sodium Channels
- Xenopus laevis