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[국내논문] Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome 원문보기

Journal of clinical neurology, v.12 no.2, 2016년, pp.181 - 187  

Lee, Jin Sook (Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.) ,  Kim, Hunmin (Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.) ,  Lim, Byung Chan (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.) ,  Hwang, Hee (Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.) ,  Choi, Jieun (Department of Pediatrics, SMG-SNU Boramae Hospital, Seoul, Korea.) ,  Kim, Ki Joong (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.) ,  Hwang, Yong Seung (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.) ,  Chae, Jong-Hee (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University Colle)

Abstract AI-Helper 아이콘AI-Helper

Background and PurposeFew studies have analyzed the clinical course and functional outcome in Leigh syndrome (LS). The aim of this study was to determine the clinical, radiological, biochemical, and genetic features of patients with LS, and identify prognostic indicators of the disease progression a...

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참고문헌 (19)

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  4. 4 Mak SC Chi CS Tsai CR Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure J Child Neurol 1998 13 349 351 9701486 

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  6. 6 Jin T Shen H Zhao Z Hu J Clinical, pathological, and neuroimaging analyses of two cases of Leigh syndrome in a Chinese family J Child Neurol 2014 29 NP143 NP148 24413359 

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  8. 8 Debray FG Lambert M Chevalier I Robitaille Y Decarie JC Shoubridge EA Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases Pediatrics 2007 119 722 733 17403843 

  9. 9 DiMauro S Servidei S Zeviani M DiRocco M DeVivo DC DiDonato S Cytochrome c oxidase deficiency in Leigh syndrome Ann Neurol 1987 22 498 506 2829705 

  10. 10 Ingman M Gyllensten U mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences Nucleic Acids Res 2006 34 Database issue D749 D751 16381973 

  11. 11 Lee HF Tsai CR Chi CS Lee HJ Chen CC Leigh syndrome: clinical and neuroimaging follow-up Pediatr Neurol 2009 40 88 93 19135620 

  12. 12 Yang YL Sun F Zhang Y Qian N Yuan Y Wang ZX Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome Chin Med J (Engl) 2006 119 373 377 16542579 

  13. 13 Wang Z Qi XK Yao S Chen B Luan X Zhang W Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case Neuropathology 2010 30 606 614 20408961 

  14. 14 Leng Y Liu Y Fang X Li Y Yu L Yuan Y The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia Mitochondrial DNA 2015 26 208 212 24708134 

  15. 15 Koenig MK Presentation and diagnosis of mitochondrial disorders in children Pediatr Neurol 2008 38 305 313 18410845 

  16. 16 Ma YY Wu TF Liu YP Wang Q Song JQ Li XY Genetic and biochemical findings in Chinese children with Leigh syndrome J Clin Neurosci 2013 20 1591 1594 23953430 

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  18. 18 Ma YY Wu TF Liu YP Wang Q Li XY Ding Y A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency Clin Genet 2015 87 179 184 24502327 

  19. 19 Naess K Freyer C Bruhn H Wibom R Malm G Nennesmo I MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome Biochim Biophys Acta 2009 1787 484 490 19103152 

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