Article
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Brain : a journal of neurology - 1 Jul 2013
Trivedi Jaya R, Bundy Brian, Statland Jeffrey, Salajegheh Mohammad, Rayan Dipa Raja, Venance Shannon L, Wang Yunxia, Fialho Doreen, Matthews Emma, Cleland James, Gorham Nina, Herbelin Laura, Cannon Stephen, Amato Anthony, Griggs Robert C, Hanna Michael G, Barohn Richard J
Abstract excerpt
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms and signs of myotonia in a large cohort of patients. We performed a prospective observational study of 95 participants with definite or clinically suspected non-dystrophic...
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