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MELAS as an example of a mitochondrial disease

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Piechota J., Mroczek M. K., Mroczek K., Bartnik B. E., Bartnik E.
Journal of Applied Genetics
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2001
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vol. 42
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issue 3
351-358
EN
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a disease mainly due to a mutation at position 3243 (A G) in the leucine tRNA gene in mitochondrial DNA. Symptoms of the disorder are complex and the exact pathogenesis is not understood. A review of the literature on the subject is presented.
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