Article
[Mitochondrial ND5 as the causative gene of Leight syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010
Wang Kang, Yan Chuan-zhu, Wang Guo-xiang, Jiao Jing-song, Jin Miao
Abstract excerpt
OBJECTIVE: To report a Chinese Han family with two patients of Leigh syndrome (LS) and to scan the mutation in mitochondrial DNA(mtDNA). METHODS: The clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA. RESULTS: Failure of thrive, psychomotor retardation, hypotonia and weakness, cerebellar ataxia, and...
Topics
- Base Sequence
- Child, Preschool
- DNA, Mitochondrial
- Electron Transport Complex I
- Female
- Humans
- Infant
- Leigh Disease
- Magnetic Resonance Imaging
- Male
- Mitochondrial Proteins