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KMID : 0359720170350040237
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Journal of the Korean Neurological Association
2017 Volume.35 No. 4 p.237 ~ p.239
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Late-onset MELAS with Chronic Kidney Disease
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Choo Il-Yeon
Lee Eung-Joon
Min Young-Gi
Kwon Hyung-Min
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Abstract
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Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We report a case of MELAS syndrome diagnosed in a 45-year-old man presented with chronic kidney disease before a stroke-like episode. Genetic testing revealed a m.3243A>G point mutation in the mtDNA. The original diagnostic criteria for MELAS required the onset of stroke-like episodes prior to 40 years of age but this case demonstrates that disease onset may delay in certain individuals.
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KEYWORD
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MELAS, Stroke, Late onset disease
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