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J Korean Neurol Assoc. 2006;24(3):260-264.
- Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA
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Sook-Hui Kim
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Department of Neurology, College of Medicine, Ewha Womans University, Seoul;
Department of Biological Science, Kongju National Universitya, Gongju;
Department of Neurology, College of Medicine, Yonsei Universityb, Seoul, Korea
- 사립체 DNA의 거대 결손이 확인된 Kearns-Sayre 증후군
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김숙희, 황정희a 정기화a 김희진 김지영 박기덕 선우일남b 최병옥
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이화여자대학교 의과대학 신경과학교실, 공주대학교 생명과학과a, 연세대학교 의과대학 신경과학교실b
- Abstract
- Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external opthalmoplegia, and ragged-red fibers in his biceps. The common 5-kb deleted mtDNA was identified in the patient by a long template PCR and DNA sequencing analysis. The deletion was located within the 8469-1344 position and a 13-kb direct repeat sequence was shown in the junction.KeyWords:Mitochondria, Kearns-Sayre syndrome, Deletion
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