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Results 1 - 10 of 150 for Optic atrophy 3
  1. ... aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and ...
  2. ... atrophy, cataract, and neurologic disorder Genetic Testing Registry: Optic atrophy 3 Autosomal dominant optic atrophy and cataract National Organization ...
  3. ... FLJ22187 FLJ25932 MGA3 MGC75494 OPA3 protein OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Tests ... Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification ...
  4. ... speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go ...
  5. ... visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss.DCMA syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of ...
  6. Macular Degeneration/Treatments and Therapies ... Macular Degeneration ... National Eye Institute ... From the National Institutes of Health ... The Age-Related Eye Disease ...
  7. ... and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry ... affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia ...
  8. ... ear cells. Histochem Cell Biol. 2003 Mar;119(3):247-56. doi: ... atrophy associated with hearing impairment and impaired glucose regulation ...
  9. What Is Mitochondrial Disease? (United Mitochondrial Disease Foundation)  
    Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... United Mitochondrial Disease Foundation
  10. ... with OPA1 mutations. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. ... impair oxidative phosphorylation and mitochondrial fusion. Brain. 2008 ...
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