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GENATLAS PHENOTYPE
last update : 24-08-2015
Symbol PEO1
Location 15q26.1
Name progressive external ophthalmoplegia 1
Corresponding gene POLG
Other symbol(s) PEOA1, PEOB1
Main clinical features
  • multiple mitochondrial DNA deletions in skeletal muscle, with adult onset of weakness of the external eye muscles and exercise intolerance
  • associated or not to cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism
    • Genetic determination autosomal recessive
    autosomal dominant
    Related entries including RA form (OMIM: 258450)
    Function/system disorder eye
    Type disease
    Gene product
    Name POLG
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     a heterozygous Y955C mutation
    Remark(s)
    Genotype/Phenotype correlations Y955C and R943H associated with most severe disease phenotype