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Results 1 - 3 of 3 for Combined oxidative phosphorylation deficiency
  1. GFM1 gene 
    ... the GFM1 gene have been found to cause combined oxidative phosphorylation deficiency 1. This condition causes severe neurologic and liver ... the neurological and liver problems in people with combined oxidative phosphorylation deficiency 1. It is thought that other tissues that ...
    https://medlineplus.gov/genetics/gene/gfm1 - Genetics
  2. SLC25A1 gene 
    ... cause a form of 2-hydroxyglutaric aciduria called combined D,L-2-hydroxyglutaric aciduria (D,L-2- ... contributes to the severe signs and symptoms of combined D,L-2-HGA More About This Health ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  3. RRM2B gene 
    ... body systems. It typically leads to brain dysfunction combined with muscle weakness (encephalomyopathy) and a problem with ... Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics