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Results 1 - 2 of 2 for Combined oxidative phosphorylation defect type 30
  1. RRM2B gene 
    ... that eye muscles are commonly affected by mitochondrial defects because they are especially ... combined with muscle weakness (encephalomyopathy) and a problem with ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  2. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    ... essential for the process of energy production (called oxidative phosphorylation). The production of nucleotides by p53R2 helps maintain ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics