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Results 1 - 10 of 11 for Combined oxidative phosphorylation deficiency 3
  1. Combined oxidative phosphorylation deficiency 1 
    ... muscle. Eur J Hum Genet. 2011 Mar;19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  2. GFM1 gene 
    ... Smeitink JA. Mutant mitochondrial elongation factor G1 and combined oxidative ... mutations. Mol Genet Metab Rep. 2015 Feb 20;3:5-10. doi: 10.1016/j.ymgmr.2015. ...
    https://medlineplus.gov/genetics/gene/gfm1 - Genetics
  3. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... not show signs and symptoms of the condition. Combined oxidative phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  4. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
  5. ACAD9 deficiency 
    ... dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation ... function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5): ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  6. Deoxyguanosine kinase deficiency 
    ... depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27. Citation on PubMed Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med. 2008;59: ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  7. Primary coenzyme Q10 deficiency 
    ... q10 deficiency syndrome. Mol Syndromol. 2014 Jul;5(3-4):141-6. doi: 10.1159/000360490. Citation on PubMed or Free article on PubMed Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183- ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  8. SLC25A1 gene 
    ... contributes to the severe signs and symptoms of combined D,L-2-HGA More About This Health Condition citrate transport protein CTP D2L2AD SEA SLC20A3 solute carrier family 20 (mitochondrial citrate transporter), member 3 solute carrier family 25 (mitochondrial carrier; citrate transporter), ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  9. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  10. 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
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