昂韦里希特-伦德伯格型进行性肌阵挛癫痫：对美国一个有四名患病同胞的家庭进行的临床和分子遗传学研究。
Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs.
作者信息
Lehesjoki A E, Eldridge R, Eldridge J, Wilder B J, de la Chapelle A
机构信息
Department of Medicine Genetics, University of Helsinki, Finland.
出版信息
Neurology. 1993 Nov;43(11):2384-6. doi: 10.1212/wnl.43.11.2384.
We describe clinical and molecular genetic data on a family from the United States in which four of five sibs are affected with progressive myoclonus epilepsy of Unverricht-Lundborg type. The gene for this disorder (EPM1) has previously been mapped to the distal region of chromosome 21. Molecular genetic results suggest that the disease gene in this family is linked to the same region of chromosome 21. Crossover events in the family help refine the gene localization by placing EPM1 between loci CBS and D21S112.
我们描述了一个来自美国的家族的临床和分子遗传学数据，该家族的五个兄弟姐妹中有四个患有翁韦里希特-伦德伯格型进行性肌阵挛癫痫。此前已将该疾病的基因（EPM1）定位到21号染色体的远端区域。分子遗传学结果表明，这个家族中的致病基因与21号染色体的同一区域相关联。该家族中的交叉事件通过将EPM1定位在CBS和D21S112基因座之间，有助于精确基因定位。
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