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Results 1 - 10 of 61 for Mitochondrial disease
  1. 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
  2. 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
  3. 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
  4. MT-TL1 gene 
    ... tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci U S A. 2005 ... UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. J Neurol Sci. 2013 Feb 15;325(1- ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  5. 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 ... required for mitochondrial DNA replication and DNA repair in quiescent cells. ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  6. HSD17B10 gene 
    ... 17beta-hydroxysteroid dehydrogenase Tests of HSD17B10 PubMed HSD10 MITOCHONDRIAL DISEASE; HSD10MD 17-BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10 NCBI ...
    https://medlineplus.gov/genetics/gene/hsd17b10 - Genetics
  7. MT-ND5 gene 
    ... major features of MELAS in combination with other mitochondrial diseases. For example, researchers have found MT-ND5 gene ... Thyagarajan D, Thorburn DR. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol. 2003 Oct;54(4):473-8. ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  8. MT-ND6 gene 
    ... Aurelio M, Sgarbi G, Solaini G. Bioenergetics of mitochondrial diseases associated with mtDNA mutations. Biochim Biophys Acta. 2004 Jul 23;1658(1-2):89-94. doi: 10.1016/j.bbabio.2004.03.013. Citation on PubMed ... variation in mitochondrial complex I genes: mutation or polymorphism? J Med ...
    https://medlineplus.gov/genetics/gene/mt-nd6 - Genetics
  9. NFU1 gene 
    ... Elpeleg O, Ribes A, Lill R. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet. 2011 ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  10. MT-ND4 gene 
    ... Aurelio M, Sgarbi G, Solaini G. Bioenergetics of mitochondrial diseases associated with mtDNA mutations. Biochim Biophys Acta. 2004 Jul 23;1658(1-2):89-94. doi: 10.1016/j.bbabio.2004.03.013. Citation on PubMed ... variation in mitochondrial complex I genes: mutation or polymorphism? J Med ...
    https://medlineplus.gov/genetics/gene/mt-nd4 - Genetics
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