Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.
Milone
M
M
Muscle Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA.
Ohno
K
K
Fukudome
T
T
Shen
X M
XM
Brengman
J
J
Griggs
R C
RC
Engel
A G
AG
D000595:Amino Acid Sequence; D005071:Evoked Potentials; D005091:Exons; D005260:Female; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D009045:Motor Endplate / Q000503:physiopathology*; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D009157:Myasthenia Gravis / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D009679:Nuclear Family; D018408:Patch-Clamp Techniques; D010375:Pedigree; D011950:Receptors, Cholinergic / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*
D046911:Macromolecular Substances; D011950:Receptors, Cholinergic