TY - T1的小说在线粒体DNA突变的细胞色素B基因(MTCYB)患者线粒体Encephalomyopathy、乳酸酸中毒,和中风发作综合症(P02.088) JF -神经学乔-神经病学SP - P02.088 LP - P02.088六世- 80 - 7补充AU -瓦伦蒂娜名叫Emmanuele AU - Evangelia Sotiriou盟Purificacion古铁雷斯里奥斯Rebecc首页a Ichord AU - Jaya Ganesh盟盟- A . Reghan Foley盟Orhan Akman AU -萨尔瓦多DiMauro Y1 - 2013/02/12 UR - //www.ez-admanager.com/content/80/7_Supplement/P02.088.abstract N2 -目的:描述小说在线粒体DNA突变(mtDNA)细胞色素B基因(MTCYB)患者线粒体Encephalomyopathy、乳酸酸中毒,strokelike集(看见)综合症。背景:孤立的线粒体呼吸链的复杂三世缺乏症是一种罕见的原因障碍。它可以是由于核基因组的突变或MTCYB。突变在MTCYB通常与孤立有关线粒体肌病和运动不耐受,很少与多系统疾病,只有一次震颤麻痹/米拉重叠综合征。设计/方法:收集临床资料。肌肉组织化学和生化分析。最常见的米拉mtDNA的突变筛选通过限制片段长度多态性(RFLP)分析。定量PCR检测执行任何mtDNA损耗。22吨tRNA基因和MTCYB MTND1-6基因测序。突变负载评估了RFLP分析。结果:一名15岁女孩有偏头痛病史的,癫痫、感觉运动神经病变,strokelike集,和乳酸酸中毒,临床照片让人想起米拉。在肌肉细胞色素c氧化酶和琥珀酸脱氢酶染色显示subsarcolemmal反应增加。 Biochemistry revealed mild complex I and complex III deficiencies in muscle. Genetic tests were negative for the common MELAS mtDNA mutations, no depletion of mitochondrial DNA was detected, and direct sequencing of all 22 transfer RNAs and the ND1-6 genes did not detect any pathogenic mutations. Sequencing of the MTCYB gene revealed a novel m.14864T>C transition. The mutation, which changes a highly conserved cysteine to arginine at amino acid position 40 of cytochrome b, was heteroplasmic in muscle (39%), blood (32%), fibroblasts (42%), and urinary sediment (57%) from the patient but absent in her asymptomatic mother.CONCLUSIONS: This case demonstrates that MTCYB must be included in the already long list of mitochondrial DNA genes that have been associated with the MELAS phenotype.Supported by: Grant from the National Institutes of Health (HD32062) and by the Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF). PGR is supported by a postdoctoral fellowship from Ministerio de Educacion y Ciencia, Spain.Disclosure: Dr. Emmanuele has nothing to disclose. Dr. Sotiriou has nothing to disclose. Dr. Gutierrez Rios has nothing to disclose. Dr. Ganesh has nothing to disclose. Dr. Ichord has nothing to disclose. Dr. Foley has nothing to disclose. Dr. Akman has nothing to disclose. Dr. DiMauro has received personal compensation in an editorial capacity for MedLink Neurology.Tuesday, March 19 2013, 7:30 am-12:00 pm ER -