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GENATLAS PHENOTYPE
last update : 16-10-2019
Symbol PEO3
Location 10q24.31
Name progressive external ophthalmoplegia, with mitochondrial DNA deletions, 3
Other name(s)
  • mitochondrial breakage syndrome
  • progressive external ophthalmoplegia 3
    • Corresponding gene TWNK
    Other symbol(s) ADPEO, PEO3, PEOA3
    Main clinical features
  • red ragged fibers and, multiple mitochondrial DNA deletions in skeletal muscle, including adult onset of weakness of the external eye muscles and exercise intolerance, associated with Parkinsonism
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name progressive external ophthalmoplegia 1 gene
    Remark(s) . mutations in cells impaired not only replication, but also the transcription of mtDNA (Goffart 2009)
    Genotype/Phenotype correlations autosomal recessive inheritance is usually more severe