Familial autoimmune myasthenia gravis.
We describe a family with parental consanguinity and five of 10 siblings affected by late-onset autoimmune myasthenia gravis. We propose a genetic mechanism as a predisposing factor in this family. Our analysis excludes the major histocompatibility complex, the beta subunit of the acetylcholine receptor, and the T-cell receptor alpha and beta subunits as candidate genes for the disorder in this family.
Bergoffen
J
J
Department of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA.
Zmijewski
C M
CM
Fischbeck
K H
KH
D000368:Aged; D001323:Autoantibodies / Q000235:genetics; D015139:Blotting, Southern; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D008297:Male; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics; D011950:Receptors, Cholinergic / Q000276:immunology
D001323:Autoantibodies; D006680:HLA Antigens; D016693:Receptors, Antigen, T-Cell, alpha-beta; D011950:Receptors, Cholinergic