Article
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Neuromuscular disorders : NMD - 1 Dec 2022
Stojkovic Tanya, Masingue Marion, Turmel Helène, Hezode-Arzel Marianne, Béhin Anthony, Leonard-Louis Sarah, Bassez Guillaume, Bauché Stéphanie, Blondy Patricia, Richard Pascale, Sternberg Damien, Eymard Bruno, Fournier Emmanuel, Villar-Quiles Rocío Nur
Abstract excerpt
Congenital myasthenic syndromes (CMS) are a group of heterogeneous diseases of the neuromuscular junction. We report electrodiagnostic testing (EDX) and genetic findings in a series of 120 CMS patients tested with a simple non-invasive EDX workup with surface recording of CMAPs and 3Hz repetitive nerve stimulation of accessory, radial and deep fibular nerves. Five ENMG phenotypes were retrieved based on the...
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