Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characteristic of MG. This may be inherited (AChR deficiency syndrome) or acquired (MG). The authors report two sisters with AChR deficiency caused by heteroallelic mutations in the AChR epsilon-subunit gene. The younger sister developed MG at 34 years. This unusual case raises the possibility that genetic defects of the AChR might be a factor in the etiology of autoimmune MG.
Croxen
Rebecca
R
Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, United Kingdom.
Vincent
Angela
A
Newsom-Davis
John
J
Beeson
David
D
D000328:Adult; D000483:Alleles; D001323:Autoantibodies / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011950:Receptors, Cholinergic / Q000172:deficiency* / Q000235:genetics* / Q000276:immunology
D001323:Autoantibodies; D011950:Receptors, Cholinergic