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Article

[Congenital myasthenic syndromes due to mutations in the rapsyn gene].

Revue neurologique - 1 May 2004

Eymard B, Ioos C, Barois A, Estournet B, Mayer M, Fournier E, Yasaki E, Prioleau C, Bauché S, Gaudon K, Leroy J P, Koenig J, Richard P, Hantaï D

Abstract excerpt

Congenital myasthenic syndromes (CMS) are genetic diseases characterized by dysfunctional neuromuscular transmission and usually start during the neonatal period. Most are due to postsynaptic abnormalities, specifically to mutations in the acetylcholine receptor (AChR) genes. In 2002, the group of A Engel reported the first cases of CMS with mutations in the gene coding rapsyn, a postsynaptic molecule which...

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Identifiers

PMID: 15269664
DOI: 10.1016/s0035-3787(04)71009-7

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

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Related research

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[Congenital myasthenic syndromes due to mutations in the rapsyn gene].PMID 15269664Read ↗

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

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.Semantic proximity Read ↗

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

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

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].Semantic proximity Read ↗

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

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.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 mutations in myasthenic syndrome due to impaired receptor clustering.Semantic proximity Read ↗

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.Semantic proximity Read ↗

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

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

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