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Article

Identification of pathogenic mutations in the human rapsyn gene.

Journal of human genetics - 1 Jan 2003

Dunne Vanessa, Maselli Ricardo A

Abstract excerpt

Rapsyn, a complex postsynaptic protein of the striated muscle, assembles acetylcholine receptors (AChR) at high density at the motor endplate (EP). Neuromuscular junctions of mice lacking rapsyn show no clusters of AChRs or other structural postsynaptic proteins such as beta-dystroglycan and utrophin. Humans with mutations in the rapsyn gene ( RAPSN) are affected with a postsynaptic form of congenital myasthenic...

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Source

Identifiers

PMID: 12730725
DOI: 10.1007/s10038-003-0005-7

Genes

RAPSN

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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Identification of pathogenic mutations in the human rapsyn gene.PMID 12730725Read ↗

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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 ↗

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 ↗

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

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

A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndromeSemantic proximity Read ↗

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A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.Semantic proximity Read ↗

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.Semantic proximity Read ↗

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