9 277

Cited 13 times in

Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases

DC FieldValueLanguage
dc.contributor.author강훈철-
dc.contributor.author김흥동-
dc.contributor.author이영목-
dc.contributor.author이윤진-
dc.contributor.author이준수-
dc.date.accessioned2015-04-24T17:10:43Z-
dc.date.available2015-04-24T17:10:43Z-
dc.date.issued2009-
dc.identifier.issn0803-5253-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/104904-
dc.description.abstractAIM: Mitochondrial disease is a heterogeneous disorder entity induced by defects in mitochondrial respiratory chain complex (MRC). A significant portion of patients with MRC defect will not conform to a specific, known syndrome. We have analysed the clinical features of 108 Korean paediatric patients with non-specific and non-categorized mitochondrial disease. METHODS: We retrospectively reviewed the clinical and laboratory features of 108 paediatrics patients with non-specific and non-categorized mitochondrial diseases who showed defects in MRC activity, confirmed by spectrophotometric biochemical enzyme assay of their muscles. RESULTS: Neuromuscular involvement was noted in all patients, with developmental delay and seizure accounting for 92.6% and 77.8% of total patients respectively. Various extraneurological symptoms were observed. Most patients exhibited MRC I defect, accounting for 100 (92.6%) patients. The most common brain magnetic resonance imaging (MRI) finding was diffuse cerebral atrophy. However, in 23.1% of patients, no notable changes were visible on MRI. CONCLUSIONS: Mitochondrial respiratory chain complex I defect was the most common finding in this study. Though neuromuscular symptoms predominated, with presence of numerous extraneurological findings, we could not find any novel symptoms that might be unique to this category of mitochondrial disease. But, comparatively, more patients presented with unremarkable birth histories and normal brain MRI findings.-
dc.description.statementOfResponsibilityopen-
dc.format.extent1825~1829-
dc.relation.isPartOfACTA PAEDIATRICA-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAcidosis, Lactic/etiology-
dc.subject.MESHAdolescent-
dc.subject.MESHBrain/metabolism-
dc.subject.MESHBrain/pathology*-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHDevelopmental Disabilities/etiology-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHMagnetic Resonance Imaging-
dc.subject.MESHMale-
dc.subject.MESHMitochondrial Diseases/complications*-
dc.subject.MESHMitochondrial Diseases/metabolism-
dc.subject.MESHMitochondrial Diseases/pathology-
dc.subject.MESHMitochondrial Proteins/genetics-
dc.subject.MESHMitochondrial Proteins/metabolism-
dc.subject.MESHMuscles/metabolism-
dc.subject.MESHMuscles/pathology*-
dc.subject.MESHRetrospective Studies-
dc.subject.MESHSeizures/etiology-
dc.subject.MESHYoung Adult-
dc.titleClinical characteristics of patients with non-specific and non-categorized mitochondrial diseases-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorJeong Tae Kim-
dc.contributor.googleauthorYun Jin Lee-
dc.contributor.googleauthorYoung Mock Lee-
dc.contributor.googleauthorHoon Chul Kang-
dc.contributor.googleauthorJoon Soo Lee-
dc.contributor.googleauthorHeung Dong Kim-
dc.identifier.doi10.1111/j.1651-2227.2009.01428.x-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00102-
dc.contributor.localIdA01208-
dc.contributor.localIdA02955-
dc.contributor.localIdA03026-
dc.contributor.localIdA03177-
dc.relation.journalcodeJ00029-
dc.identifier.eissn1651-2227-
dc.identifier.pmid19659453-
dc.identifier.urlhttp://onlinelibrary.wiley.com/doi/10.1111/j.1651-2227.2009.01428.x/abstract-
dc.subject.keywordMagnetic resonance imaging-
dc.subject.keywordMitochondria-
dc.subject.keywordNeuromuscular system-
dc.subject.keywordRespiratory chain complex-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.alternativeNameKim, Heung Dong-
dc.contributor.alternativeNameLee, Young Mock-
dc.contributor.alternativeNameLee, Yun Jin-
dc.contributor.alternativeNameLee, Joon Soo-
dc.contributor.affiliatedAuthorKang, Hoon Chul-
dc.contributor.affiliatedAuthorKim, Heung Dong-
dc.contributor.affiliatedAuthorLee, Young Mock-
dc.contributor.affiliatedAuthorLee, Yun Jin-
dc.contributor.affiliatedAuthorLee, Joon Soo-
dc.citation.volume98-
dc.citation.number11-
dc.citation.startPage1825-
dc.citation.endPage1829-
dc.identifier.bibliographicCitationACTA PAEDIATRICA, Vol.98(11) : 1825-1829, 2009-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.