Mika H. Martikainen Mitochondrial disease in southwestern Finland. Population-based molecular genetic and clinical studies From the the Department of Neurology, University of Turku and Turku University Hospital, Turku, Finland Annales Universitatis Turkuensis Ser. D Painosalama Oy, Turku, Finland 2012 Mitochondria are present in all eukaryotic cells. They enable these cells utilize oxygen in th...

OBJECTIVE The prevalence of mitochondrial disease has proven difficult to establish, predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of mitochondrial disease has expanded significantly since the original reports that associated classic clinical syndromes with mitochondrial DNA (mtDNA) rearrangements and point mutations. The revolution in genetic technolo...