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GENATLAS PHENOTYPE
last update : 24-08-2015
Symbol PEOB2
Location 2p25.3
Name progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Corresponding gene RNASEH1
Main clinical features
  • mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria
  • ptosis, progressive ophthalmoplegia, walking difficulties, dysphagia, and dysarthria
  • brain imaging showed cerebellar atrophy
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)