The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms

Congenital myasthenic syndromes (CMS) are a group of inherited disorders of neuromuscular transmission most commonly presenting with early onset fatigable weakness, ptosis, and ophthalmoparesis. CMS are classified according to the localization of the causative molecular defect. CMS with presynaptic...

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Auteurs principaux:	Stefan Nicolau, Margherita Milone
Format:	Artigo
Langue:	Inglês
Publié:	Frontiers Media S.A. 2019-03-01
Collection:	Frontiers in Neurology
Sujets:	congenital myasthenic syndromes electromyography facilitation neuromuscular junction repetitive nerve stimulation
Accès en ligne:	https://www.frontiersin.org/article/10.3389/fneur.2019.00257/full
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