Article
Gene analysis of the calcium channel 1 subunit and clinical studies for two patients with hypokalemic periodic paralysis.
Journal of endocrinological investigation - 1 Nov 2006
Kageyama K, Terui K, Tsutaya S, Matsuda E, Shoji M, Sakihara S, Nigawara T, Takayasu S, Moriyama T, Yasujima M, Suda T
Abstract excerpt
Hypokalemic periodic paralysis (HypoPP) is a skeletal muscle disorder in which episodic attacks of muscle weakness occur; they are associated with decreased serum potassium (K+) levels. Recent molecular approaches have clarified that the condition is caused by mutations in the skeletal muscle voltage-gated calcium channel 1 subunit (CACNA1S). We describe two unrelated patients with HypoPP, followed by their...
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