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Unformatted text preview: -Usually no “ragged red” fibers-Defect in mtDNA • Usually tRNA-leucine defect • UUR mutation is seen • A3243G substitution • OMIM540000-DCA (Dicholoracetate) • Activates pyruvate dehydrogenase • May relieve lactic acidosis • NOT a CURE MERRF (Myoclonus Epilepsy with Ragged Red muscle Fibers Rare -Neurological • Epilepsy, ataxia (clumbiness) • Hearing loss • Ragged red ribers on pathology of muscle tissue -Defect in mDNA • Usually a defect in tRNA lysine • OMIM 545000-Supportive...
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- Spring '11
- lactic acidosis, Myoclonus, Ragged Red muscle, Ragged red ribers