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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.
Department of Biological Science, Kongju National University, Gongju, Korea.
Department of Neurology, College of Medicine, Yonsei University, Seoul, Korea.

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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