Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 t...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Excitatory Postsynaptic Potentials
Share to Microscopy, Electron
Share to Muscle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myasthenic Syndromes, Congenital

Share to Neuromuscular Junction

Share to Receptors, Cholinergic

Share to Synaptic Membranes

Share to Synaptic Transmission

Source

Identifiers

PMID: 12929188
DOI: 10.1002/mus.10433

Genes

RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12929188-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.PMID 12929188Read ↗

Identification of pathogenic mutations in the human rapsyn gene.Semantic proximity Read ↗

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.Semantic proximity Read ↗

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.Semantic proximity Read ↗

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.Semantic proximity Read ↗

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

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.Semantic proximity Read ↗

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.Semantic proximity Read ↗

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndromeSemantic proximity Read ↗

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.Semantic proximity Read ↗

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.Semantic proximity Read ↗

Congenital myasthenic syndromes: A diverse array of molecular targets.Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.