期刊
BRAIN & DEVELOPMENT
卷 31, 期 4, 页码 322-325出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2008.05.009
关键词
Complex I deficiency; Mitochondrial dysfunction; Ohtahara syndrome
资金
- Fondo de Investigacion Sanitaria (FIS) [03/0283, G03/ 011]
- Ministerio de Sanidad, Spain
- Instituto de Salud Carlos III [98/3166]
We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare. Despite the few cases reported, in our view Ohtahara syndrome should be considered as one of the forms of presentation of mitochondrial dysfunction. (C) 2008 Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据