Article
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.
European journal of human genetics : EJHG - 1 Sept 2004
McDonnell Martina T, Schaefer Andrew M, Blakely Emma L, McFarland Robert, Chinnery Patrick F, Turnbull Douglass M, Taylor Robert W
Abstract excerpt
The 3243A > G mutation is one of the most frequently observed mutations of mitochondrial DNA (mtDNA), and is associated with numerous clinical presentations including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), progressive external ophthalmoplegia (PEO) and diabetes and deafness. The routine diagnosis of the 3243A > G mutation in blood is difficult as mutation levels...
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