Article
Congenital myasthenic syndromes.
Handbook of clinical neurology - 1 Jan 2013
Eymard Bruno, Hantaï Daniel, Estournet Brigitte
Abstract excerpt
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. The characterization of CMS comprises two complementary steps: establishing the diagnosis and identifying the pathophysiological type of CMS. The combination of clinical, electrophysiological, and morphological studies...
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