TY - JOUR
T1 - Congenital endplate acetylcholinesterase deficiency responsive to ephedrine
AU - Bestue-Cardiel, Maria
AU - Saenz De Cabezon-Alvarez, A.
AU - Capablo-Liesa, J. L.
AU - López-Pisón, J.
AU - Peña-Segura, J. L.
AU - Martin-Martinez, J.
AU - Engel, A. G.
PY - 2005/7/12
Y1 - 2005/7/12
N2 - 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.
AB - 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.
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U2 - 10.1212/01.wnl.0000167132.35865.31
DO - 10.1212/01.wnl.0000167132.35865.31
M3 - Article
C2 - 16009904
AN - SCOPUS:22044438577
SN - 0028-3878
VL - 65
SP - 144
EP - 146
JO - Neurology
JF - Neurology
IS - 1
ER -