Disease

Progressive External Ophthalmoplegia

About the Disease
Chronic Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4, and has symptoms including ophthalmoplegia An important gene associated with Chronic Progressive External Ophthalmoplegia is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways are Metabolism and Organelle biogenesis and maintenance. The drugs 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and heart, and related phenotypes are Strongly decreased CFP-tsO45G cell surface transport and Strongly decreased CFP-tsO45G cell surface transport

Common Targets
TRNS1 | C1QBP | TWNK | RNASEH1 | POLG | TK2 | SPG7 | TRNI | POLG2 | OPA1 | TRNL1 | GMPR | RRM2B | ROBO3 | TRNM | GJB2 | TRNN | Tubulin | TRNP

疾病靶点研报
Progressive External Ophthalmoplegia

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