Abstract
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.
Publication types
-
Case Reports
-
Research Support, N.I.H., Extramural
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Acetylcholinesterase / chemistry
-
Acetylcholinesterase / deficiency*
-
Acetylcholinesterase / genetics*
-
Adolescent
-
Adrenergic Agents / pharmacology
-
Adrenergic Agents / therapeutic use
-
Child
-
Cholinesterase Inhibitors
-
DNA Mutational Analysis
-
Diagnosis, Differential
-
Electromyography
-
Ephedrine / pharmacology
-
Ephedrine / therapeutic use
-
Female
-
Genetic Predisposition to Disease / genetics*
-
Humans
-
Male
-
Muscle, Skeletal / innervation
-
Muscle, Skeletal / physiopathology
-
Mutation / genetics
-
Myasthenic Syndromes, Congenital / drug therapy
-
Myasthenic Syndromes, Congenital / enzymology
-
Myasthenic Syndromes, Congenital / genetics*
-
Neostigmine
-
Neuromuscular Junction / enzymology
-
Neuromuscular Junction / genetics*
-
Neuromuscular Junction / physiopathology
-
Protein Structure, Tertiary / genetics
-
Synaptic Transmission / drug effects
-
Synaptic Transmission / genetics
Substances
-
Adrenergic Agents
-
Cholinesterase Inhibitors
-
Neostigmine
-
Acetylcholinesterase
-
Ephedrine