PT -期刊文章盟Caterina加隆AU -玛丽亚爱丽丝Donati AU -米歇尔Sacchini盟莎拉·卡尔沃AU - Beatriz Garcia-Diaz盟盟来自研究者考虑萨尔瓦多DiMauro TI -婴儿线粒体Encephalomyopathy由于小说突变ACAD9 (P03.017) DP - 2013年2月12日TA -神经病学PG - P03.017 P03.017 VI - 80 IP - 7补充4099 - //www.ez-admanager.com/content/80/7_Supplement/P03.017.short 4100首页 - //www.ez-admanager.com/content/80/7_Supplement/P03.017.full所以Neurology2013 2月12;80 AB -目的:确定致病基因变异早发性复杂的不足。背景:复杂我缺是最常见的与早发性呼吸链缺陷致命encephalomyopathy。尽管许多分子缺陷描述了在结构单元和装配因素,基因诊断仍然未知的群体的病人。设计/方法:我们在肌肉生化和分子进行研究,从小儿患者线粒体encephalomyopathy培养的成纤维细胞。下一代外显子组测序与线粒体基因文库(MitoExome)应用于识别的分子缺陷。结果:一个9岁的意大利男孩有严重infantile-onset肌病与运动不耐受、无力、肌肉萎缩。他也有精神发育迟滞和严重复杂的不足。代谢检查显示血浆乳酸水平上升,acylcarnitine C0,丙氨酸,甲状腺功能障碍。肌电图是兼容肌痛和肌肉活检显示线粒体扩散过程。心脏功能正常,没有异常的大脑核磁共振。生化研究表明严重复杂的我和中等复杂三世缺陷在肌肉和成纤维细胞。 Western blot analysis of mtDNA-encoded respiratory chain components showed reduced protein level of complex I. MitoExome sequencing revealed a new homozygous mutation in ACAD9 gene (p.R414C) that was confirmed by Sanger sequence and found in heterozygosity in both parents. Improvement of muscle strength was reported after treatment with high-dose riboflavin.CONCLUSIONS: ACAD9 is a complex I assembly factor whose defects have been associated with a protean clinical spectrum spanning from pure myopathy with exercise intolerance and lactic acidosis to rapidly progressive encephalomyopathy and hypertrophic cardiomyopathy. Our case contributes adds to the clinical heterogeneity of ACAD9 deficiency and confirms the importance of assembly factors in causing complex I deficiency.Disclosure: Dr. Garone has nothing to disclose. Dr. Donati has nothing to disclose. Dr. Sacchini has nothing to disclose. Dr. Calvo has nothing to disclose. Dr. Garcia-Diaz has nothing to disclose. Dr. Mootha has nothing to disclose. Dr. DiMauro has received personal compensation in an editorial capacity for MedLink Neurology.Tuesday, March 19 2013, 2:00 pm-6:30 pm