Article
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Neurology - 1 Oct 1997
Wagner S, Lerche H, Mitrovic N, Heine R, George A L, Lehmann-Horn F
Abstract excerpt
A point mutation A4078G predicting the amino acid exchange Met1360Val in segment IV/S1 of the human muscle sodium channel alpha-subunit was identified in a family presenting features of hyperkalemic periodic paralysis and paramyotonia congenita with sex-related modification of expression. In this...
Topics
- Amino Acid Sequence
- Base Sequence
- Electric Conductivity
- Electromyography
- Female
- Genetic Testing
- Humans
- Hyperkalemia
- Male
- Middle Aged
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Myotonia
- Paralysis
- Pedigree
- Sodium Channels
- Syndrome