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Biochemical and genetic analysis of Leigh syndrome patients in Korea
Cited 4 time in
Web of Science
Cited 7 time in Scopus
- Authors
- Issue Date
- 2007-12-25
- Publisher
- Elsevier
- Citation
- Brain Dev. 2008;30(6):387-390
- Keywords
- Child, Preschool ; DNA, Mitochondrial/*genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Korea ; Leigh Disease/*genetics/*metabolism ; Male ; Multienzyme Complexes/classification/*deficiency ; Point Mutation/*genetics ; Retrospective Studies
- 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.
- ISSN
- 0387-7604 (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18155376
http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T50-4RDBYY8-1-1&_cdi=4988&_user=168665&_orig=search&_coverDate=06%2F30%2F2008&_sk=999699993&view=c&wchp=dGLbVzz-zSkzS&md5=dc8a7588c434ad1f9c44b75d1af9b7bf&ie=/sdarticle.pdf
https://hdl.handle.net/10371/68115
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