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 language | English (US) |
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Title of host publication | Clinical Child Neurology |
Publisher | Springer International Publishing |
Pages | 1257-1279 |
Number of pages | 23 |
ISBN (Electronic) | 9783319431536 |
ISBN (Print) | 9783319431529 |
DOIs | |
State | Published - Jan 1 2020 |
Externally published | Yes |
Bibliographical note
Publisher Copyright:© Springer Nature Switzerland AG 2020.