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Results 1 - 10 of 113 for Mitochondrial disease
  1. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. PLoS One. 2016 Jan 6;11(1):e0145500. ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  2. Cytochrome c oxidase deficiency 
    ... immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion. 2011 May;11(3):430-6. doi: ... S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  3. MT-ATP6 gene 
    ... Goldstein AC, Klopstock T, Falk MJ. MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 ... Aurelio M, Sgarbi G, Solaini G. Bioenergetics of mitochondrial diseases associated with mtDNA mutations. Biochim Biophys Acta. 2004 ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  4. Mitochondrial DNA 
    ... on PubMed McKenzie M, Liolitsa D, Hanna MG. Mitochondrial disease: mutations and mechanisms. Neurochem Res. 2004 Mar;29( ... Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  5. POLG gene 
    ... variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ... and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. PLoS One. 2016 Jan 6;11(1):e0145500. ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  6. Mitochondrial complex I deficiency 
    ... degeneration. These syndromes can also have other causes. Mitochondrial diseases are thought to occur in about 1 in ... I deficiency is the most common cause of mitochondrial disease in children, accounting for approximately 30 percent of ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  7. MT-TH gene 
    ... with cardiomyopathy, but without other common signs of mitochondrial disease such as neurological abnormalities. This mutation replaces the ... mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat. 2013 Sep;34(9):1260-8. ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  8. HSD10 disease 
    ... II deficiency MHBD deficiency Genetic Testing Registry: HSD10 mitochondrial disease HSD10 disease National Organization for Rare Disorders (NORD) HSD10 MITOCHONDRIAL DISEASE; HSD10MD PubMed Chatfield KC, Coughlin CR 2nd, Friederich ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  9. Alpers-Huttenlocher syndrome 
    ... variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ... DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59- ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  10. Ataxia neuropathy spectrum 
    ... variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ... DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59- ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
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