Article
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.
Neuromuscular disorders : NMD - 1 Jan 1997
Fouad G, Dalakas M, Servidei S, Mendell J R, Van den Bergh P, Angelini C, Alderson K, Griggs R C, Tawil R, Gregg R, Hogan K, Powers P A, Weinberg N, Malonee W, Ptácek L J
Abstract excerpt
Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant or sporadic disorder characterized by periodic, reversible attacks of muscle weakness. Mutations in the skeletal muscle dihydropyridine receptor alpha 1-subunit that functions as a calcium channel (CACNL1A3) cause hypoKPP. We studi...
Topics
- Adolescent
- Adult
- Calcium Channels
- Calcium Channels, L-Type
- Child
- Genotype
- Humans
- Hypokalemia
- Male
- Muscle Proteins
- Mutation
- Paralysis
- Periodicity
- Phenotype
- Polymorphism, Single-Stranded Conformational