Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 2 of 2 for Combined oxidative phosphorylation defect type 17
  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 ... Taylor RW, Gorman GS. RRM2B Mitochondrial DNA Maintenance Defects. 2014 Apr 17 [updated 2021 Jun 24]. In: Adam MP, Feldman ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics