Neuromuscular transmission disorders

Mustafa A.M. Salih, Peter B. Kang

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Congenital myasthenic syndrome (CMS) is a heterogenous group of inherited disorders caused by genetic defects that affect transmission of signals from nerve terminals to muscle endplates at the neuromuscular junction (NMJ) [1-4]. Based on the site and biochemical mechanism of the underlying defect, they are classified in presynaptic, synaptic (basal lamina-associated), and postsynaptic subcategories of CMS. The recent classification takes into account defects in protein glycosylation causing CMS [2]. These abnormal proteins are located at different sites of the endplate.

Original languageEnglish (US)
Title of host publicationClinical Child Neurology
PublisherSpringer International Publishing
Pages1257-1279
Number of pages23
ISBN (Electronic)9783319431536
ISBN (Print)9783319431529
DOIs
StatePublished - Jan 1 2020
Externally publishedYes

Bibliographical note

Publisher Copyright:
© Springer Nature Switzerland AG 2020.

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