Article
Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes.
The Journal of physiology - 1 Mar 1995
Sipos I, Jurkat-Rott K, Harasztosi C, Fontaine B, Kovacs L, Melzer W, Lehmann-Horn F
Abstract excerpt
1. Mutations in the gene encoding the alpha 1-subunit of the skeletal muscle dihydropyridine (DHP) receptor are responsible for familial hypokalaemic periodic paralysis (HypoPP), an autosomal dominant muscle disease. We investigated myotubes cultured from muscle of patients with arginine-to-histi...
Topics
- Base Sequence
- Calcium Channels
- Calcium Channels, L-Type
- DNA
- Humans
- Hypokalemia
- Molecular Sequence Data
- Muscle Fibers, Skeletal
- Muscle, Skeletal
- Mutation
- Paralyses, Familial Periodic
- Patch-Clamp Techniques
- Pedigree
- RNA, Messenger