Article
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
Journal of child neurology - 1 Feb 2005
Tay Stacey K H, Shanske Sara, Crowe Carol, Shanske Alan, Schafer Irwin, Pancrudo Jacklyn, Lu Jiesheng, Bonilla Eduardo, DiMauro Salvatore
Abstract excerpt
The majority of patients with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) have the A3243G point mutation. The much rarer T3271C mutation has been reported predominantly in Japanese subjects. Our objective was to better define the clinical phenotype and mutation load in patients with MELAS and the T3271C mutation in mitochondrial DNA. We present clinical and molecular genetic...
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