Article
Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1996
Sillén A, Wadelius C, Sundvall M, Ahlsten G, Gustavson K H
Abstract excerpt
Linkage studies and mutation analysis were performed in two Swedish families with hyperkalemic periodic paralysis (HYPP), an autosomal dominant inherited disorder characterized by episodic muscle weakness associated with increasing or high levels of serum potassium. The gene for HYPP is the gene encoding the alpha-subunit of the sodium channel of adult human skeletal muscle (SCN4A). SCN4A has been localized on...
Topics
- Adult
- Alleles
- Base Sequence
- Chromosomes, Human, Pair 17
- Genetic Linkage
- Humans
- Hyperkalemia
- Microsatellite Repeats
- Muscle, Skeletal
- Paralysis
- Point Mutation
- Polymorphism, Genetic
- Sodium Channels