J Korean Neurol Assoc.  2006 Jun;24(3):260-264.

Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA

Affiliations
  • 1Department of Neurology, College of Medicine, Ewha Womans University, Seoul, Korea. bochoi@ewha.ac.kr
  • 2Department of Biological Science, Kongju National University, Gongju, Korea.
  • 3Department 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.

Keyword

Mitochondria; Kearns-Sayre syndrome; Deletion

MeSH Terms

Adolescent
DNA, Mitochondrial*
Humans
Kearns-Sayre Syndrome*
Male
Mitochondria
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid
Retinitis Pigmentosa
Sequence Analysis, DNA
DNA, Mitochondrial
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