J Korean Neurol Assoc > Volume 21(3); 2003 > Article

Journal of the Korean Neurological Association 2003;21(3): 311-314.

"T8356C의 점상 돌연변이를 보인 Mitochondrial Intestinal Pseudo- Obstruction with Neurogenic Bladder 증후군 -새로운 사립체질환?-"

윤성상 , 이미숙 김만호 이태규 장대일 정경천

경희대학교 의과대학 부속병원 신경과학교실,서울대학교 의과대학 부속병원 신경과학교실

"Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C - A New Mitochondrial Disease?"

Sung-Sang Yoon

"Department of Neurology, College of Medicine, Kyung Hee University, Department of Neurology, College of Medicine, Seoul National University"

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"