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첫 증상으로 심정지를 보인, 새로운 NDUFS1 돌연변이를 가진 리증후군 증례

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Author(s)
이나현김도훈변준철
Keimyung Author(s)
Kim, Do HoonByun, Jun Chul
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Journal Title
Keimyung Med J
Issued Date
2023
Volume
42
Issue
2
Keyword
Heart arrestLeigh diseaseMitochondrial diseaseNDUFS1 gene
Abstract
Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder. Over 75 pathogenic mutations have been identified in both the mitochondrial and nuclear genomes. Leigh syndrome can be diagnosed based on clinical manifestations, physical and biochemical examinations, and brain magnetic resonance imaging results. Patients with Leigh syndrome classically present in early childhood with developmental regression, ataxia, and hypotonia with subsequent respiratory and brainstem dysfunction. However, the clinical course of Leigh syndrome is heterogeneous with significant differences in age of onset, symptom severity and prognosis. Here, we report a case of Leigh syndrome with cardiac arrest as initial presentation, and identified the novel mutation of NDUFS1 gene.
Alternative Title
Cardiac Arrest as the Initial Presentation of Leigh Syndrome Associated with Novel NDUFS1 Mutation
Keimyung Author(s)(Kor)
김도훈
변준철
Publisher
School of Medicine (의과대학)
Type
Article
ISSN
2733-5380
Source
https://www.e-kmj.org/journal/view.php?number=2271
DOI
10.46308/kmj.2023.00017
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/45130
Appears in Collections:
2. Keimyung Medical Journal (계명의대 학술지) > 2023
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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