% 0期刊文章% b . Cormand % h . Pihko % m .贝叶斯% l . Valanne % p . Santavuori % b . Talim %一个r . Gershoni-Baruch % A . Ahmad % h . van Bokhoven % % h·g·布鲁纳一个t .我们% h . Topaloglu % A.-E b Dobyns %。Lehesjoki % T临床和遗传区别Walker-Warburg综合症和muscle-eye-brain疾病2001% % D R 10.1212 / WNL.56.8.1059 % J神经病学% P 1059 - 1069 V % 56% 8% N X背景:三个罕见的常染色体隐性首页障碍分享先天性肌肉萎缩症的组合和大脑畸形包括神经元迁移缺陷:muscle-eye-brain疾病(MEB) Walker-Warburg综合症(WWS)和福山先天性肌肉萎缩症(FCMD)。此外,眼部异常是一个常数特性MEB WWS资源。缺乏一致的眼部异常FCMD允许一个明确临床界定的综合症,而表型区分MEB和WWS一直有争议的。MEB基因位于染色体1 p32-p34。目的:建立区分诊断标准MEB WWS和确定MEB WWS等位基因疾病。方法:作者进行了临床表征紧随其后的是连锁分析19 MEB / WWS有29个人影响的家庭。使用基于芬兰MEB患者的临床诊断标准,每个病人都归类为MEB或WWS资源。连杆和单体型分析使用10标记生成MEB轨迹进行整个家庭资源。结果:患者在11个家庭被划分MEB WWS和8的家庭。 Strong evidence in favor of genetic heterogeneity was obtained in the 19 families. There was evidence for linkage to 1p32-p34 in all but 1 of the 11 pedigrees segregating the MEB phenotype. In contrast, linkage to the MEB locus was excluded in seven of eight of the WWS families. Conclusion: These results allow the classification of MEB and WWS as distinct disorders on both clinical and genetic grounds and provide a basis for the mapping of the WWS gene(s). %U //www.ez-admanager.com/content/neurology/56/8/1059.full.pdf