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전형적인 MR 소견을 보인 Leigh 증후군 1예

Other Titles
 A Case of Leigh Syndrome with Typical MRI and MRS Findings 
Authors
 강정우  ;  김정찬  ;  선우일남  ;  김승민  ;  조정희  ;  조필자 
Citation
 Journal of the Korean Neurological Association, Vol.22(5) : 545-547, 2004 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2004
Keywords
Leigh syndrome ; Mitochondrial disorders
Abstract
Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Sunwoo, Il Nam(선우일남)
Cho, Jeong Hee(조정희)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112260
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