Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA.
- Author:
Sook Hui KIM
1
;
Jung Hee HWANG
;
Ki Wha CHUNG
;
Hee Jin KIM
;
Jee Young KIM
;
Ki Duk PARK
;
Il Nam SUNWOO
;
Byung Ok CHOI
Author Information
1. Department of Neurology, College of Medicine, Ewha Womans University, Seoul, Korea. bochoi@ewha.ac.kr
- Publication Type:Case Report
- Keywords:
Mitochondria;
Kearns-Sayre syndrome;
Deletion
- MeSH:
Adolescent;
DNA, Mitochondrial*;
Humans;
Kearns-Sayre Syndrome*;
Male;
Mitochondria;
Polymerase Chain Reaction;
Repetitive Sequences, Nucleic Acid;
Retinitis Pigmentosa;
Sequence Analysis, DNA
- From:Journal of the Korean Neurological Association
2006;24(3):260-264
- CountryRepublic of Korea
- Language:Korean
-
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.
