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Article

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome

21 Feb 2023

Abstract excerpt

Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic acetylcholine receptor clustering and maintenance. Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of the reasons causing the pathogenies of congenital myasthenic syndrome (CMS). In addition, there is little research on...

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PMID: 36815443
DOI: 10.17305/bb.2022.8641

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