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Original Article

MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings

Young Ghil Rah, Soo Ahn Chae, In Suk Lim, Dong Keun Lee, Byoung Hun Yoo, Tae Sung Ko, Han Wook Yoo

Clin Exp Pediatr. 1999;42(3):412-418. Published online March 15, 1999

MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS. We described here clinical and molecular genetic findings of sister and brother with MELAS syndrome. For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the substitution...

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