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Article

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Neurology - 10 Jun 2003

Müller J S, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A

Abstract excerpt

BACKGROUND: Mutations in various genes of the neuromuscular junction may cause congenital myasthenic syndromes (CMS). Most mutations identified to date affect the epsilon-subunit gene of the acetylcholine receptor (AChR), leading to end-plate AChR deficiency. Recently, three different mutations i...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12796535
DOI: 10.1212/01.wnl.0000072262.14931.80

Genes

RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12796535-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.PMID 12796535Read ↗

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Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.Semantic proximity Read ↗

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