- Original Article
- Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber(MERRF) Syndrome
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Tae-Sung Ko, Sang-Ahm Lee, Gheeyoung Choe, Han-Wook Yoo
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Clin Exp Pediatr. 1998;41(7):941-952. Published online July 15, 1998
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Purpose : Myoclonic epilepsy with ragged red fiber(MERRF) syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive myoclonus(action), epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia, sensorineural hearing loss and optic atrophy. Its inheritance is maternally inherited mitochondrial mutation, and its pathologic finding is characterized by ragged red fibers(RRF). Biochemically its defects are diverse. This study was... |
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