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Results 1 - 10 of 47 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. 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
  4. 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
  5. 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
  6. 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
  7. Childhood myocerebrohepatopathy 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/.../childhood-myocerebrohepatopathy-spectrum - Genetics
  8. Myoclonic epilepsy myopathy sensory ataxia 
    ... 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/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  9. Progressive external ophthalmoplegia 
    ... Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ... translocase type 1 (ANT1): a new factor in mitochondrial disease. IUBMB Life. 2005 Sep;57(9):607-14. ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  10. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    ... more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people. MELAS can result from mutations in one of several genes, including MT-ND1, ... own DNA, known as mitochondrial DNA or mtDNA.Some of the genes related ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
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