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Biochemical and genetic analysis of Leigh syndrome patients in Korea
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chae, Jong-Hee | - |
dc.contributor.author | Lee, Jin Sook | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.contributor.author | Hirano, Michio | - |
dc.date.accessioned | 2010-07-01T05:02:08Z | - |
dc.date.available | 2010-07-01T05:02:08Z | - |
dc.date.issued | 2007-12-25 | - |
dc.identifier.citation | Brain Dev. 2008;30(6):387-390 | en |
dc.identifier.issn | 0387-7604 (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18155376 | - |
dc.identifier.uri | 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 | - |
dc.identifier.uri | https://hdl.handle.net/10371/68115 | - |
dc.description.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. | en |
dc.language.iso | en | en |
dc.publisher | Elsevier | en |
dc.subject | Child, Preschool | en |
dc.subject | DNA, Mitochondrial/*genetics | en |
dc.subject | Female | en |
dc.subject | Humans | en |
dc.subject | Infant | en |
dc.subject | Infant, Newborn | en |
dc.subject | Korea | en |
dc.subject | Leigh Disease/*genetics/*metabolism | en |
dc.subject | Male | en |
dc.subject | Multienzyme Complexes/classification/*deficiency | en |
dc.subject | Point Mutation/*genetics | en |
dc.subject | Retrospective Studies | en |
dc.title | Biochemical and genetic analysis of Leigh syndrome patients in Korea | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 채종희 | - |
dc.contributor.AlternativeAuthor | 이진숙 | - |
dc.contributor.AlternativeAuthor | 김기중 | - |
dc.contributor.AlternativeAuthor | 황용승 | - |
dc.identifier.doi | 10.1016/j.braindev.2007.11.001 | - |
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