期刊
MITOCHONDRION
卷 8, 期 2, 页码 136-145出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2007.10.008
关键词
mtDNA; neuromuscular disorder; respiratory chain dysfunction; surveyor endonuclease
Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named Surveyor (TM) Nuclease, for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel). (C) 2007 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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