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Biochemical and genetic analysis of Leigh syndrome patients in Korea

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dc.contributor.authorChae, Jong-Hee-
dc.contributor.authorLee, Jin Sook-
dc.contributor.authorKim, Ki Joong-
dc.contributor.authorHwang, Yong Seung-
dc.contributor.authorHirano, Michio-
dc.date.accessioned2010-07-01T05:02:08Z-
dc.date.available2010-07-01T05:02:08Z-
dc.date.issued2007-12-25-
dc.identifier.citationBrain Dev. 2008;30(6):387-390en
dc.identifier.issn0387-7604 (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18155376-
dc.identifier.urihttp://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.urihttp://hdl.handle.net/10371/68115-
dc.description.abstractSixteen 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.isoenen
dc.publisherElsevieren
dc.subjectChild, Preschoolen
dc.subjectDNA, Mitochondrial/*geneticsen
dc.subjectFemaleen
dc.subjectHumansen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectKoreaen
dc.subjectLeigh Disease/*genetics/*metabolismen
dc.subjectMaleen
dc.subjectMultienzyme Complexes/classification/*deficiencyen
dc.subjectPoint Mutation/*geneticsen
dc.subjectRetrospective Studiesen
dc.titleBiochemical and genetic analysis of Leigh syndrome patients in Koreaen
dc.typeArticleen
dc.contributor.AlternativeAuthor채종희-
dc.contributor.AlternativeAuthor이진숙-
dc.contributor.AlternativeAuthor김기중-
dc.contributor.AlternativeAuthor황용승-
dc.identifier.doi10.1016/j.braindev.2007.11.001-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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