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Article

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

Neurology - 12 Jul 2005

Bestue-Cardiel M, Sáenz de Cabezón-Alvarez A, Capablo-Liesa J L, López-Pisón J, Peña-Segura J L, Martin-Martinez J, Engel A G

Abstract excerpt

The authors describe two patients with congenital myasthenic syndrome (CMS) with end plate acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal Y230S mutation in Patient 1 and Y430S and a C-terminal splice-site mutation in Patient 2. In Patient 1, a Prostigmin (neostigmine bromide) test failed to distinguish between AChE deficiency and a...

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Identifiers

PMID: 16009904
DOI: 10.1212/01.wnl.0000167132.35865.31

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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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