Analysis of giant deletions of human mitochondrial DNA in progressive external ophthalmoplegia

摘要: The ‘mitochondrial myopathies’ were initially defined mainly on the basis of morphological criteria, such as appearance in muscle sections ‘ragged red fibres’ (RRFs). RRFs are a hallmark proliferating mitochondria muscle, and seen stained with modified Gomori trichrome patches (Engel Cunningham, 1963). In last ten years, biochemical analyses have helped reclassify these diseases, type mitochondrial function which was impaired. These include defects substrate transport utilization, Krebs cycle, oxidative phosphorylation, respiratory chain (DiMauro et al., 1987). bulk recent work this field has focused chain. Only now we beginning to analyse errors at molecular genetic level.