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KMID : 0359720030210030311
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Journal of the Korean Neurological Association
2003 Volume.21 No. 3 p.311 ~ p.314
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Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C - A New Mitochondrial Disease? -
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Yoon Sung-Sang
Lee Mee-Suk
Kim Man-Ho
Lee Tae-Gyu
Chang Dae-Il
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Abstract
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We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of myoclonic epilepsy with ragged-red fibers. To the best of our knowledge, this is the first report of a mitochondrial syndrome consisting of intestinal pseudo-obstruction, neurogenic bladder, and progressive external ophthalmoplegia, point mutation at T8356C. We suggest that this could comprise a new mitochondrial disease rather than a new variant of mitochondrial neurogastrointestinal encephalomyopathy.
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KEYWORD
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Mitochodrial Disease, Neurogenic bladder, T8356C
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