Article
Clinical features in a series of fast channel congenital myasthenia syndrome.
Neuromuscular disorders : NMD - 1 Feb 2012
Palace Jacqueline, Lashley Daniel, Bailey Stephen, Jayawant Sandeep, Carr Aisling, McConville John, Robb Stephanie, Beeson David
Abstract excerpt
Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We report a case of 12 fast channel patients to highlight clinical features and management difficulties. Patients were diagnosed through genetic screening and identification of mutations shown to cause fast channel syndrome. Data was obtained from clinical notes, history, examination and follow up. Patterns of muscle...
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