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Title: Biochemical and genetic analysis of Leigh syndrome patients in Korea. Author: Chae JH, Lee JS, Kim KJ, Hwang YS, Hirano M. Journal: Brain Dev; 2008 Jun; 30(6):387-90. PubMed ID: 18155376. Abstract: Sixteen Korean patients with Leigh syndrome were identified at the Seoul National University Children's Hospital in 2001-2006. Biochemical or molecular defects were identified in 14 patients (87.5%). Thirteen patients had respiratory chain enzyme defects; 9 had complex I deficiency, and 4 had combined defects of complex I+III+IV. Based on the biochemical defects, targeted genetic studies in 4 patients with complex I deficiency revealed two heteroplasmic mitochondrial DNA mutations in ND genes. One patient had the mitochondrial DNA T8993G point mutation. No mitochondrial DNA defects were identified in 11 (68.7%) of our LS patients, who probably have mutations in nuclear DNA. Although a limited study based in a single tertiary medical center, our findings suggest that isolated complex I deficiency may be the most common cause of Leigh syndrome in Korea.[Abstract] [Full Text] [Related] [New Search]