Article
Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.
Neuromuscular disorders : NMD - 1 Jan 2000
Tahmoush A J, Schaller K L, Zhang P, Hyslop T, Heiman-Patterson T, Caldwell J H
Abstract excerpt
Mutations of the skeletal muscle sodium (Na) channel have been reported in families with paramyotonia congenita (PC), an autosomal dominant disorder with cold and/or exercise induced stiffness and myotonia. Functional consequences of specific Na channel mutations responsible for PC have not been described. Patch clamp recording of single Na channels were made in cultured myotubes at 22 and 34 degrees C from a PC...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- DNA
- Electrophysiology
- Humans
- Membrane Potentials
- Molecular Sequence Data
- Muscle, Skeletal
- Mutation
- Myotonia Congenita