Các bệnh do đột biến điểm trong DNA ty thể
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#đột biến DNA ty thể #bệnh thoái hóa thần kinh cơ #bệnh viêm thần kinh thị giác di truyền Leber #bệnh động kinh myoclonic #hội chứng bệnh não ty thểTài liệu tham khảo
Brown MD, 1991, Mitochondrial DNA cytochrome b mutations associated with Leber's Hereditary Optic Neuropathy and evidence for deleterious interactions between mutations, Am J Hum Genet, 49, 183
Holt IJ, 1990, A new mitochondrial disease associated with mitochondrial DNA heteroplasmy, Am J Hum Genet, 46, 428
Howell N, 1991, Leber hereditary optic atrophy: Identification of the same mitochondrial ND1 mutation in six pedigrees, Am J Hum Genet, 49, 939
Howell N, 1991, Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation, Am J Hum Genet, 48, 935
Huoponen K, 1991, A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy, Am J Hum Genet, 48, 1147
ShoffnerJM FernhoffPM Krawieckiet al (1992)Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.Neurology(in press)..
Tatuch Y, 1992, Heteroplasmic mitochondrial DNA mutation (T to G) at 8993 can cause Leigh's disease when the percentage of abnormal mitochondrial DNA is high, Am J Hum Genet, 50, 852
Wallace DC, 1986, Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two dimensional‐proteolytic digest gels, Am J Hum Genet, 38, 461
WallaceDC ShoffnerJM WattsRL JuncosJL TorroniA(1992)Mitochondrial oxidative phosphorylation defects in Parkinson's disease.Ann Neurol(in press)..
Zeviani M, 1991, Rapid detection of the A‐G (8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged‐red fibers (MERRF), Am J Hum Genet, 48, 203