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Article

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

Muscle & nerve - 1 Sept 2003

Maselli Ricardo A, Dunne Vanessa, Pascual-Pascual Samuel Ignacio, Bowe Constance, Agius Mark, Frank Rochelle, Wollmann Robert L

Abstract excerpt

Rapsyn, a 43-kDa postsynaptic protein, is essential for anchoring and clustering acetylcholine receptors (AChRs) at the endplate (EP). Mutations in the rapsyn gene have been found to cause a postsynaptic congenital myasthenic syndrome (CMS). We detected six patients with CMS due to mutations in the rapsyn gene (RAPSN). In vitro studies performed in the anconeus muscle biopsies of four patients showed severe...

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Source

Identifiers

PMID: 12929188
DOI: 10.1002/mus.10433

Genes

RAPSN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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