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Article

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Neuromuscular disorders : NMD - 1 May 2007

Richard Pascale, Gaudon Karen, Fournier Emmanuel, Jackson Christopher, Bauché Stéphanie, Haddad Hafedh, Koenig Jeanine, Echenne Bernard, Hantaï Daniel, Eymard Bruno

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are rare hereditary disorders transmitted in a recessive or dominant pattern, and are caused by mutations in the genes encoding proteins of the neuromuscular junction. They are classified in three groups depending on the origin of the molecular defect. Postsynaptic defects are the most frequent and have been reported to be partly due to abnormalities of the acetylcholine...

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Source

Identifiers

PMID: 17363247
DOI: 10.1016/j.nmd.2007.01.018

Genes

CHRNE

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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