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Article

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

Neurology - 10 Oct 2006

Müller J S, Baumeister S K, Rasic V M, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H

Abstract excerpt

OBJECTIVE: Congenital myasthenic syndromes (CMS) with underlying RAPSN mutations turned out to be of high clinical relevance due to their worldwide frequency. To date, all reported patients with CMS with sequence variations in the translated region of RAPSN carry the mutation N88K on at least one allele. The authors report two patients lacking the common N88K allele but harboring differing novel mutations of the...

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Source

Identifiers

PMID: 16931511
DOI: 10.1212/01.wnl.0000233837.79459.40

Genes

RAPSN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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