title: [Mitochondrial ND5 as the causative gene of Leight syndrome].
abstract: 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 seizure were the main manifestations of the family. Brain magnetic resonance imaging (MRI) showed lesions at midbrain, periaqueductal gray matter, dentate nuclei of cerebellar and thalami. The levels of lactic acid and pyruvate were mildly abnormal. The mutation of ND5*13513 G to A was identified in the LS family.
  
  
  CONCLUSIONS
  Patients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome.
authors.affiliation: Department of Neurology, China-Japan Friendship Hospital, Beijing, P.R. China.
authors.forename: Kang
authors.initials: K
authors.lastname: Wang
authors.forename: Chuan-zhu
authors.initials: CZ
authors.lastname: Yan
authors.forename: Guo-xiang
authors.initials: GX
authors.lastname: Wang
authors.forename: Jing-song
authors.initials: JS
authors.lastname: Jiao
authors.forename: Miao
authors.initials: M
authors.lastname: Jin
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I