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GTR Home > Conditions/Phenotypes > Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3


Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. [from MONDO]

Genes See tests for all associated and related genes

  • Also known as: MTDPS2, MTTK, PEOB3, SCA31, TK2-EXT, TK2
    Summary: thymidine kinase 2

Clinical features


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