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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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Principais autores: Stefan Nicolau, Margherita Milone
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019-03-01
Serier:Frontiers in Neurology
Fag:
congenital myasthenic syndromes
electromyography
facilitation
neuromuscular junction
repetitive nerve stimulation
Online adgang:https://www.frontiersin.org/article/10.3389/fneur.2019.00257/full
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