Kearns-Sayre Syndrome

About the Disease
Kearns-Sayre Syndrome, also known as ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and mitochondrial dna depletion syndrome 7, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Kearns-Sayre Syndrome is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1), and among its related pathways/superpathways are Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". The drugs Dalfampridine and Clemastine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle, and related phenotypes are abnormality of retinal pigmentation and progressive external ophthalmoplegia

Common Targets
TRNV | PPARA | EPO

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