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References OMIM Gene GeneReviews HGMD HGNC
last update : 16-10-2019
Symbol PEO5
Location 8q22.3
Name progressive external ophthalmoplegia 5
Corresponding gene RRM2B
Other symbol(s) PEOA5
Main clinical features
  • progressive external ophthalmoplegia characterized by multiple mitochondrial DNA deletions in postmitotic tissues and respiratory-chain-deficient ragged-red fibers with abnormal mitochondria in the muscle biopsy
  • disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease