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Results 1 - 3 of 3 for Combined oxidative phosphorylation defect type 7
  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. Primary coenzyme Q10 deficiency 
    ... plays an essential role in a process called oxidative phosphorylation, which converts the energy from food into a ... that a shortage (deficiency) of coenzyme Q10 impairs oxidative phosphorylation and increases the vulnerability of cells to damage ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  3. 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 ... 80. doi: 10.1038/ng2040. Epub 2007 May 7. Citation on PubMed Lim AZ, ... Mitochondrial DNA Maintenance Defects. 2014 Apr 17 [updated 2021 Jun 24]. In: ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics