A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.
Croxen
R
R
Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, United Kingdom.
Beeson
D
D
Newland
C
C
Betty
M
M
Vincent
A
A
Newsom-Davis
J
J
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