A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.
Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, United Kingdom.
R
R
Croxen
D
D
Beeson
C
C
Newland
M
M
Betty
A
A
Vincent
J
J
Newsom-Davis
D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D018895:Microsatellite Repeats; D009157:Myasthenia Gravis / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D011950:Receptors, Cholinergic / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome
D046911:Macromolecular Substances; D011950:Receptors, Cholinergic