1Holt IJ,Harding AE,Cooper JM,et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol,1989,26:699-708.
2Anderson S,Bankier AT,Barrell BG,et al.Sequence and organization of the human mitochondrial genome.Nature ,1981,290:457-465.
3Wallace DC, Ye JH, Neckelmann SN,et al.Sequence analysis of cDNAs for the human and bovine ATP synthase-B-subunit-mitochondrial-DNA genes sustain 17 times more mutations.Curr Genet,1987,12:81-90.
4Schon EA,Rizzuto R,Moraes CT,et al.A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science,1989,244:346-349.
5Shoffner JM,Lott MT,Voljavec AS,et al.Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci USA,1989,86:7952-7956.
6Cortopassi GA,Shibata D,Soong NW,et al.A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Natl Acad Sci USA,1992,89:7370-7374.
7Schon EA,Koga Y,Davidson M,et al.The mitochondrial tRNA(Leu)(UUR) mutation in melas: a model for pathogenesis.Biochim Biophys Acta,1992,10:206-209.
8Corral DM,Horton T,Lott MT,et al. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet ,1992,2:324-329.
9Arnheim N, Cortopassi G. Deleterious mitochondrial DNA mutations accumulate in ageing human tissues. Mutat Res, 1992,275:157-167.
10Hou JH, Wei YH. The unusual structures of the hot-regions lanking large-scale deletions in human mitochondrial DNA. Biochem J, 1996,318:1065-1070.