Tuesday, February 1, 2011

The Atypical Myotonia Congenita/Potassium-Aggravated Myotonia Connection

According to this 2003 GeneReviews article by Doctors Jurkat-Rott and Lehmann-Horn about hyperkalemic periodic paralysis (under "Genetically Related [Allelic] Disorders"), atypical myotonia congenita is the form of potassium-aggravated myotonia known as acetazolamide-responsive myotonia. Two other forms of potassium-aggravated myotonia are myotonia fluctuans and myotonia permanens.

The abstract for the paper cited in GeneReviews, "Sodium Channel Mutations in Acetazolamide-Responsive Myotonia Congenita, Paramyotonia Congenita, and Hyperkalemic Periodic Paralysis," by Ptacek, Tawil, et al., can be found here.

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