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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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This note was uploaded on 09/14/2011 for the course PHARM ERM taught by Professor Staff during the Spring '11 term at UCSD.
- Spring '11