Article
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
American journal of human genetics - 1 Aug 1998
Majamaa K, Moilanen J S, Uimonen S, Remes A M, Salmela P I, Kärppä M, Majamaa-Voltti K A, Rusanen H, Sorri M, Peuhkurinen K J, Hassinen I E
Abstract excerpt
Mitochondrial diseases are characterized by considerable clinical variability and are most often caused by mutations in mtDNA. Because of the phenotypic variability, epidemiological studies of the frequency of these disorders have been difficult to perform. We studied the prevalence of the mtDNA mutation at nucleotide 3243 in an adult population of 245,201 individuals. This mutation is the most common molecular...
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