OCULAR MYOPATHY AND MITOCHONDRIAL-DNA DELETION - A PRESENTATION OF 7 NEWLY IDENTIFIED DANISH PATIENTS

This paper summarizes the data on Danish patients with ocular myopathy and mitochondrial DNA deletion (Delta mtDNA). To date, a single Danis h patient harbouring Delta mtDNA has been reported, In the present stu dy we have identified seven additional ones and characterized the natu re of their deletion, both qualitatively and quantitatively, All patie nts are sporadic cases each with a single deletion in the range of 2.3 -7.8 kb, the Delta mtDNA accounting for 10-75% of the total mtDNA in t he biopsy analyzed, The clinical severity correlates with the percenta ge of deletion molecules, and not with the size of the deletion.