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J Korean Neurol Assoc. 2006 Jun;24(3):260-264. Korean. Case Report.
Kim SH , Hwang JH , Chung KW , Kim HJ , Kim JY , Park KD , Sunwoo IN , Choi BO .
Department of Neurology, College of Medicine, Ewha Womans University, Seoul, Korea. bochoi@ewha.ac.kr
Department of Biological Science, Kongju National University, Gongju, Korea.
Department of Neurology, College of Medicine, Yonsei University, Seoul, Korea.
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.

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