Article
MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.
Biochemical and biophysical research communications - 12 Nov 2010
Connolly Barbara S, Feigenbaum Annette S J, Robinson Brian H, Dipchand Anne I, Simon David K, Tarnopolsky Mark A
Abstract excerpt
The A to G transition mutation at position 3260 of the mitochondrial genome is usually associated with cardiomyopathy and myopathy. One Japanese kindred reported the phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) in association with the A3260G mtDNA mutation. We describe the first Caucasian cases of MELAS syndrome associated with the A3260G mutation....
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