Article
Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
Current opinion in neurology - 1 Oct 2010
Raja Rayan Dipa L, Hanna Michael G
Abstract excerpt
PURPOSE OF REVIEW: The aim is to review the recent findings in relation to the genetics, pathophysiology, clinical phenotypes, investigation and treatment of the nondystrophic myotonias (NDMs) and periodic paralyses. RECENT FINDINGS: The number of pathogenic mutations causing NDMs and periodic paralyses in known genes continues to expand. In addition, a mutation has been identified in the ryanodine receptor gene...
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