Clinical and Experimental Pediatrics

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Sang-Ahm Lee (Lee SA)

1 Article

Original Article

Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber(MERRF) Syndrome

Tae-Sung Ko, Sang-Ahm Lee, Gheeyoung Choe, Han-Wook Yoo

Clin Exp Pediatr. 1998;41(7):941-952. Published online July 15, 1998

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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