Neuromuscular transmission disorders

Mustafa A.M. Salih; Peter B. Kang

doi:10.1007/978-3-319-43153-6_42

Neuromuscular transmission disorders

Mustafa A.M. Salih, Peter B. Kang

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
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	https://doi.org/10.1007/978-3-319-43153-6_42
State	Published - Jan 1 2020
Externally published	Yes

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© Springer Nature Switzerland AG 2020.

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AU - Kang, Peter B.

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AB - 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.

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PB - Springer International Publishing

ER -

Neuromuscular transmission disorders

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