[Congenital myasthenic syndrome related to homozygous missense mutation in promoter region of acetylcholine receptor epsilon-subunit gene].
Shcherbakova
N I
NI
Sidorova
O P
OP
Menenkova
E Iu
EIu
Galimova
G M
GM
Kononenko
Iu V
IuV
Sanadze
A G
AG
Neretin
V Ia
VIa
D000328:Adult; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D006720:Homozygote; D006801:Humans; D018482:Muscle, Skeletal / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D009157:Myasthenia Gravis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000235:genetics*
D021122:Protein Subunits; D011950:Receptors, Cholinergic