The Clinical Study and HLA Genotyping of 112 Familial Myasthenia Gravis Patients

作     者：卜碧涛 杨明山 徐金枝 龚非力 姜晓丹 聂小波 BU Bitao , YANG Mingshan , XU Jinzhi Department of Neurology, Tongji Hospital, Tongji Medical University, Wuhan 430030 GONG Feili, JIANG Xiaodan , NIE Xiaobo Department of Immunology, School of Medical Sciences, Tongji Medical Uni

出 版 物：《Journal of Huazhong University of Science and Technology(Medical Sciences)》 (华中科技大学学报（医学英德文版）)

年 卷 期：1999年第19卷第1期

页      面：47-50页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：familial myasthenia gravis Mendellian autosomal inheritance HLA genotyping pedigree analysis 

摘      要：Summary: One hundred and twelve cases of familial myasthenia gravis (MG) from 44 families selected from 2100 patients with MG diagnosed since 1983 in the Department of Neurology were studied. The clinical pictures and immunological features of the patients showed a great resemblance to those of sporadic cases. The pedigree analysis disclosed that the hereditary patterns of familial patients were basically Mendellian autosomal inheritance. Many predisposing factors such as fever, infection, use of aminoglycoside or vaccines, played an important role in presenting the phenotype of subclinical cases. The HLA genotyping suggested that the complement polymorphism C4A*4, the complotype S42, and the genes 0901 and 1301 of DRB1 allele, were related to the pathogenesis of MG. It was concluded that the phenotype of MG may be the result of interaction between hereditary defects and environmental factors.