Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.
Outteryck
O
O
Richard
P
P
Lacour
A
A
Fournier
E
E
Zéphir
H
H
Gaudon
K
K
Eymard
B
B
Hantaï
D
D
Vermersch
P
P
Stojkovic
T
T
D000328:Adult; D004252:DNA Mutational Analysis; D004576:Electromyography; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation / Q000502:physiology*; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics* / Q000473:pathology*; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D011950:Receptors, Cholinergic / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*
C504423:CHRNE protein, human; D011950:Receptors, Cholinergic; D011978:Receptors, Nicotinic