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J Korean Neurol Assoc. 2003 Jun;21(3):311-314. Korean. Case Report.
Yoon SS , Lee MS , Kim MH , Lee TG , Chang DI , Chung KC .
Department of Neurology, College of Medicine, Kyung Hee University, Korea. HSYoon96@hitel.net
Department of Neurology, College of Medicine, Seoul National University, Korea.
Abstract

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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