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Paramyotonia congenita and hyperkalemic periodic...
Journal article

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

Abstract

The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others, and, in a third variant, …

Authors

Ebers GC; George AL; Barchi RL; Ting‐Passador SS; Kallen RG; Lathrop GM; Beckman JS; Hahn AF; Brown WF; Campbell RD

Journal

Annals of Neurology, Vol. 30, No. 6, pp. 810–816

Publisher

Wiley

Publication Date

12 1991

DOI

10.1002/ana.410300610

ISSN

0364-5134