Article
Identification of a mutation in the gene causing hyperkalemic periodic paralysis.
Cell - 29 Nov 1991
Ptácek L J, George A L, Griggs R C, Tawil R, Kallen R G, Barchi R L, Robertson M, Leppert M F
Abstract excerpt
DNA from seven unrelated patients with hyperkalemic periodic paralysis (HYPP) was examined for mutations in the adult skeletal muscle sodium channel gene (SCN4A) known to be genetically linked to the disorder. Single-strand conformation polymorphism analysis revealed aberrant bands that were unique to three of these seven patients. All three had prominent fixed muscle weakness, while the remaining four did not....
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