TY -的T1 - < em > POLG < / em >突变患者患有白内障,早发性远端肌无力和萎缩和卵巢发育不全(P07.207) JF -神经学乔-神经病学SP - P07.207 LP - P07.207六世- 78 - 1补充AU -米尔Reza Bekheirnia AU -张魏盟Tanya首页 Eble盟Alecia威利斯AU -阿齐兹Shaibani盟李进王盟——费尔南多Scaglia盟什维塔Dhar Y1 - 2012/04/26 UR - //www.ez-admanager.com/content/78/1_Supplement/P07.207.abstract N2 -目的:扩大临床表型与POLG突变和调查POLG变异的分子基础的患者3-methylglutaconic酸尿。背景突变POLG占最频繁的一个核编码线粒体疾病的原因。个人窝藏POLG突变表现出不同的临床表现,已经成为越来越难以分类定义这些患者临床表型。设计/方法:临床、分子和基因分析以及神经生理学检查。设置:成人遗传学临床和神经和肌肉中心。病人:23岁的白种人/拉丁美洲史的妇女白内障诊断年龄1年;早发性远端肌无力和萎缩2岁,在青春期卵巢发育不全。主要结果测量:该病的临床描述及其小说的基因原因。结果:病人被发现有3-methylglutaconic酸与正常3 hydroxyisovaleric酸尿有机酸分析。POLG测序完成和杂合子小说变体,c。2851T>A (p.Y951N) was found which is predicted to be deleterious.Conclusions: There are limited reports of POLG mutation in individuals with 3-methylglutaconic aciduria. This case report of a young woman with a heterozygote mutation in POLG, presenting with muscle weakness and atrophy at a young age aims to aid clinicians in similar challenging diagnostic situations as well as enhances our understanding of POLG-related disease phenotypes.Disclosure: Dr. Bekheirnia has nothing to disclose. Dr. Zhang has nothing to disclose. Dr. Eble has nothing to disclose. Dr. Willis has nothing to disclose. Dr. Shaibani has nothing to disclose. Dr. Wong has nothing to disclose. Dr. Scaglia has nothing to disclose. Dr. Dhar has nothing to disclose.Thursday, April 26 2012, 14:00 pm-18:30 pm ER -