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Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lim, Byung Chan | - |
dc.contributor.author | Park, Jun Dong | - |
dc.contributor.author | Hwang, Hee | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Chae, Jong-Hee | - |
dc.contributor.author | Kim, In One | - |
dc.contributor.author | Moon, Han Ku | - |
dc.contributor.author | Lee, Ran | - |
dc.contributor.author | Cheon, Jung-Eun | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.date.accessioned | 2012-06-12T04:08:13Z | - |
dc.date.available | 2012-06-12T04:08:13Z | - |
dc.date.issued | 2009-07 | - |
dc.identifier.citation | JOURNAL OF CHILD NEUROLOGY; Vol.24 7; 828-832 | ko_KR |
dc.identifier.issn | 0883-0738 | - |
dc.identifier.uri | https://hdl.handle.net/10371/76988 | - |
dc.description.abstract | An increasing number of reports on mitochondrial DNA coding regions` Mutations, especially in mitochondrial DNA-encoded NADH dehydrogenase (ND) Subunit genes of the respiratory chain complex I, have been published recently, making it possible to improve the molecular diagnosis of many mitochondrial diseases in children with variable clinical features. This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome overlap syndrome and atypical Leigh syndrome. These cases add to the increasing number of reports stating that mitochondrial DNA-encoded protein-coding regions are mutation hot spots in pediatric patients with encephalopathies with variable clinical spectra. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | SAGE PUBLICATIONS INC | ko_KR |
dc.subject | childhood mitochondrial encephalopathy | ko_KR |
dc.subject | Leigh syndrome | ko_KR |
dc.subject | respiratory chain | ko_KR |
dc.subject | G13513A | ko_KR |
dc.subject | T10191C | ko_KR |
dc.title | Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 임병찬 | - |
dc.contributor.AlternativeAuthor | 박준동 | - |
dc.contributor.AlternativeAuthor | 황희 | - |
dc.contributor.AlternativeAuthor | 김기중 | - |
dc.contributor.AlternativeAuthor | 황용승 | - |
dc.contributor.AlternativeAuthor | 채종희 | - |
dc.contributor.AlternativeAuthor | 전정은 | - |
dc.contributor.AlternativeAuthor | 김인원 | - |
dc.contributor.AlternativeAuthor | 이란 | - |
dc.contributor.AlternativeAuthor | 문한구 | - |
dc.identifier.doi | 10.1177/0883073808331085 | - |
dc.citation.journaltitle | JOURNAL OF CHILD NEUROLOGY | - |
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dc.description.tc | 5 | - |
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