期刊
MITOCHONDRION
卷 10, 期 5, 页码 449-455出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2010.04.003
关键词
Kearns-Sayre syndrome; mtDNA deletion; Mitochondrial DNA; Heteroplasmy; Long-range PCR; Common deletion
资金
- Tunisian Ministry of Higher Education, Scientific Research and Technology
Kearns-Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondria! DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with typical features of KSS. Long-range PCR amplification of the mtDNA in different tissues from this patient showed multiple mitochondrial deletions: two novel 9.768 and 7.253 kb deletions spanning respectively nucleotides 6124-15,893 and 8572-15,826 associated with the common 4.977 kb deletion. (C) 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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