Chin D, Gubbay S S
Clin Exp Neurol. 1985;21:141-8.
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.
本文描述了来自三个不同家族的六名家族性重症肌无力患者。三兄弟被归类为患有家族性肢带型重症肌无力,另外三名患者来自另外两个家族,被归类为患有家族性先天性重症肌无力。对临床特征、HLA抗原分型、自身抗体筛查和抗乙酰胆碱受体抗体进行了分析。本系列病例体现了这种疾病在家族之间的变异性,证实了家族性重症肌无力的异质性。