Bergoffen J, Zmijewski C M, Fischbeck K H
Department of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA.
Neurology. 1994 Mar;44(3 Pt 1):551-4. doi: 10.1212/wnl.44.3_part_1.551.
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.
我们描述了一个有近亲结婚情况的家庭,10个兄弟姐妹中有5人患迟发性自身免疫性重症肌无力。我们提出一种遗传机制作为该家庭发病的一个易感因素。我们的分析排除了主要组织相容性复合体、乙酰胆碱受体的β亚基以及T细胞受体的α和β亚基作为该家庭中该疾病候选基因的可能性。