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Results 1 - 8 of 8 for Combined oxidative phosphorylation deficiency 4
  1. 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
  2. SLC25A1 gene 
    ... in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... Munnich A, Rotig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. 2005 Dec;86(4):462-5. doi: 10.1016/j.ymgme.2005. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. Primary coenzyme Q10 deficiency 
    ... 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
  5. 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
  6. 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
  7. 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
  8. Spastic paraplegia type 7 
    ... adulthood. The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in ... paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics