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J Korean Neurol Assoc. 2003;21(3):311-314.
- "Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder
Syndrome: Point Mutation at T8356C
- A New Mitochondrial Disease?"
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Sung-Sang Yoon
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"Department of Neurology, College of Medicine, Kyung Hee University,
Department of Neurology, College of Medicine, Seoul National University"
- "T8356C의 점상 돌연변이를 보인 Mitochondrial Intestinal Pseudo-
Obstruction with Neurogenic Bladder 증후군
-새로운 사립체질환?-"
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윤성상 , 이미숙 김만호 이태규 장대일 정경천
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경희대학교 의과대학 부속병원 신경과학교실,서울대학교 의과대학 부속병원 신경과학교실
- Abstract
- "We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neuro-genic
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 con-sisting
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.Key Words: Mitochodrial Disease, Neurogenic bladder, T8356C"
Keywords :
- 초록
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