Myoclonic Epilepsy With Ragged Red Fibers

About the Disease
Myoclonic Epilepsy Associated with Ragged-Red Fibers, also known as merrf syndrome, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and parkinson disease, mitochondrial. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1), and among its related pathways/superpathways is "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". Affiliated tissues include eye, heart and brain, and related phenotypes are ataxia and sensorineural hearing impairment

Common Targets
TRNK

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