Article
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
Proceedings of the National Academy of Sciences of the United States of America - 20 Dec 1994
Yang N, Ji S, Zhou M, Ptácek L J, Barchi R L, Horn R, George A L
Abstract excerpt
Mutations in the skeletal muscle voltage-gated Na+ channel alpha-subunit have been found in patients with two distinct hereditary disorders of sarcolemmal excitation: hyperkalemic periodic paralysis (HYPP) and paramyotonia congenita (PC). Six of these mutations have been functionally expressed in...
Topics
- Base Sequence
- Biophysical Phenomena
- Biophysics
- DNA Primers
- Electric Conductivity
- Humans
- In Vitro Techniques
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Myotonia
- Paralyses, Familial Periodic
- Sodium Channels
- Structure-Activity Relationship