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A MELAS syndrome family harboring two mutations in mitochondrial genome

Choi BO, Hwang JH, Kim J, Cho EM, Cho SY, Hwang SJ, Lee HW, Kim SJ, Chung KW

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms. Here, from the sequencing of the entire mitochondrial genome, we...
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Histochemical and Molecular Genetic Study of MELAS and MERRF in Korean Patients

Kim DS, Jung DS, Park KH, Kim IJ, Kim CM, Lee WH, Rho SK

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) and myoclonic epilepsy and raggedred fibers (MERRF) are rare disorders caused by point mutation of the tRNA gene of the mitochondrial...
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