Article
Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Neuropediatrics - 1 Aug 2001
Okhuijsen-Kroes E J, Trijbels J M, Sengers R C, Mariman E, van den Heuvel L P, Wendel U, Koch G, Smeitink J A
Abstract excerpt
Mitochondrial DNA (mtDNA) disorders are clinically very heterogeneous, ranging from single organ involvement to severe multisystem disease. One of the most frequently observed mtDNA mutations is the A-to-G transition at position 3243 of the tRNA(Leu (UUR)) gene. This mutation is often related to MELAS syndrome. However, not all patients with the A3243G mutation share the same clinical disease expression and, on...
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