Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.

doi:10.1007/BF02334608

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Article

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.

Italian journal of neurological sciences - 1 Dec 1994

Sansone V, Rotondo G, Ptacek L J, Meola G

Abstract excerpt

The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC phenotype) or changes in extracellular K+ levels resulting from various preci...

Topics

Adult
Base Sequence
Electromyography
Female
Humans
Italy
Male
Middle Aged
Molecular Sequence Data
Muscle, Skeletal
Mutation
Myotonia Congenita
Pedigree
Phenotype
Polymorphism, Genetic
Sodium Channels

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