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Article

[Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor].

Medecine sciences : M/S - 1 Nov 2023

Islam Kediha Mohamed, Tazir Meriem, Sternberg Damien, Eymard Bruno, Ali Pacha Lamia

Abstract excerpt

Congenital myasthenic syndromes (CMS) are genetically and phenotypically very heterogeneous conditions resulting in a defect in the neuromuscular transmission. Post-synaptic forms are the most frequent CMSs, and acetyl choline receptor (low expressor) deficiency is the most commonly involved pathophysiological mechanism. CMS with kinetic abnormalities of the acetylcholine receptor (AChr) are much rarer and can...

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Identifiers

PMID: 37975772
DOI: 10.1051/medsci/2023135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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