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Combined oxidative phosphorylation deficiency 3
- ... 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
- ... 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. ...
- ... not show signs and symptoms of the condition. Combined oxidative phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus ...
- ... dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation ... function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5): ...
- ... 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: ...
- ... 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- ...
- ... 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), ...
- ... 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 ...
- ... adulthood. The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in ... homeostasis and neurodegeneration. Cell Res. 2018 Mar;28(3):296-306. doi: 10.1038/cr.2018.17. ...