Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

Maria Bestue-Cardiel, A. Saenz De Cabezon-Alvarez, J. L. Capablo-Liesa, J. López-Pisón, J. L. Peña-Segura, J. Martin-Martinez, A. G. Engel

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


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 slow-channel CMS. Both patients responded dramatically to ephedrine therapy.

Original languageEnglish (US)
Pages (from-to)144-146
Number of pages3
Issue number1
StatePublished - Jul 12 2005

ASJC Scopus subject areas

  • Clinical Neurology


Dive into the research topics of 'Congenital endplate acetylcholinesterase deficiency responsive to ephedrine'. Together they form a unique fingerprint.

Cite this