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Cause of Rare Genetic Disorder Points to Faulty Ion Channel

  May, 24 2001 14:18
your information resource in human molecular genetics
May 18, 2001— Researchers have tracked the cause of a rare disorder that produces muscle paralysis, heart arrhythmias and abnormal growth to mutations in a gene that encodes a pore-like protein that regulates the flow of potassium ions across cell membranes.

The discovery of the origin of the inherited disorder, called Andersen's syndrome, is the first known human ion channel disorder, or channelopathy, that has been linked to muscle abnormalities and developmental defects. Channelopathy is a term coined to describe diseases that are caused by defective ion channel proteins.

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