Familial myasthenia gravis: a study of three families.
Six patients suffering from familial myasthenia gravis belonging to three different families are described. Three brothers are classified as having familial limb-girdle myasthenia and the other three patients, belonging to two other families, are classified as having familial congenital myasthenia. The clinical features, HLA antigen typing, autoantibody screening and anti-acetylcholine receptor antibodies were analysed. The variability of this condition from family to family is exemplified in this series and confirms the heterogeneous nature of familial myasthenia gravis.
D000328:Adult; D001323:Autoantibodies / Q000032:analysis; D002648:Child; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology; D010375:Pedigree; D011950:Receptors, Cholinergic / Q000276:immunology
D001323:Autoantibodies; D006680:HLA Antigens; D011950:Receptors, Cholinergic