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Article

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

Neuropediatrics - 1 Aug 2004

Ioos C, Barois A, Richard P, Eymard B, Hantaï D, Estournet-Mathiaud B

Abstract excerpt

We report the cases of 3 children with postsynaptic congenital myasthenic syndrome with acetylcholine receptor deficiency due to rapsyn deficiency. Symptoms began at the neonatal period with hypotonia, arthrogryposis, bulbar symptoms, and respiratory distress. Two of the 3 children needed tracheo...

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Source

Identifiers

PMID: 15328566
DOI: 10.1055/s-2004-820993

Genes

RAPSN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15328566-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

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Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.PMID 15328566Read ↗

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 ↗

Distinct phenotypes of congenital acetylcholine receptor deficiency.Semantic proximity Read ↗

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

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

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

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

Congenital myasthenic syndromes: A diverse array of molecular targets.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 syndromes due to mutations in the rapsyn gene].Semantic proximity Read ↗

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