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Results 1 - 4 of 4 for Combined oxidative phosphorylation deficiency 29
  1. RRM2B gene 
    ... Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  2. Primary coenzyme Q10 deficiency 
    ... deficiencies and related nephropathies. Pediatr Nephrol. 2014 Jun;29(6):961-9. doi: ... M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183- ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... Munnich A, Rotig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. ACAD9 deficiency 
    ... skeletal muscles). Severely affected individuals have brain dysfunction combined with myopathy (encephalomyopathy); these individuals usually also have ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics