Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

doi:10.1002/ana.410330312

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Article

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

Annals of neurology - 1 Mar 1993

Ptacek L J, Gouw L, Kwieciński H, McManis P, Mendell J R, Barohn R J, George A L, Barchi R L, Robertson M, Leppert M F

Abstract excerpt

Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium-sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature-sensitive (paramyotonia congenita [PC]) forms. Recent work has revealed that these disorders result fr...

Topics

Adult
Amino Acid Sequence
DNA
Female
Humans
Hyperkalemia
Male
Molecular Sequence Data
Mutation
Myotonia Congenita
Paralysis
Polymorphism, Genetic
Sodium Channels

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