Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.

Abstract excerpt

PURPOSE OF REVIEW: This article reviews recent advances in clinical, genetic, diagnostic and pathophysiological aspects of the skeletal muscle channelopathies. RECENT FINDINGS: Genetic advances include the use of the minigene assay to confirm pathogenicity of splice site mutations of CLC-1 chloride channels and a new gene association for Andersen-Tawil syndrome. Mutations causing a gating pore current have been...

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