Article
Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.
American journal of physiology. Cell physiology - 1 Oct 2009
Sacconi S, Simkin D, Arrighi N, Chapon F, Larroque M M, Vicart S, Sternberg D, Fontaine B, Barhanin J, Desnuelle C, Bendahhou S
Abstract excerpt
Andersen's syndrome is a rare disorder that has been defined with a triad: periodic paralysis, cardiac arrhythmia, and development anomalies. Muscle weakness has been reported in two-thirds of the patients. KCNJ2 remains the only gene linked to Andersen's syndrome; this gene encodes for the alpha-subunit of the strong inward-rectifier K+ channel Kir2.1. Several studies have shown that Andersen's syndrome...
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