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Results 1 - 10 of 19 for Mitochondrial encephalopathy
  1. BCS1L gene 
    ... assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16(10):1241-52. doi: 10.1093/hmg/ddm072. Epub 2007 Apr 2. Citation on PubMed ... mRNA in mitochondrial complex III deficiency. Mitochondrion. 2009 Sep;9(5): ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  2. FBXL4 gene 
    ... McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  3. RRM2B gene 
    ... mtDNA in cells. MedlinePlus Genetics provides information about Mitochondrial neurogastrointestinal encephalopathy disease More About This Health Condition At least ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  4. TYMP gene 
    ... TYMP gene have been identified in people with mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease. This condition affects several parts of ...
    https://medlineplus.gov/genetics/gene/tymp - Genetics
  5. POLG gene 
    ... This Health Condition MedlinePlus Genetics provides information about Mitochondrial neurogastrointestinal encephalopathy disease More About This Health Condition Variants in ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  6. ETHE1 gene 
    ... Rimoldi M, Zeviani M. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med. 2009 Feb;15(2):200-5. ...
    https://medlineplus.gov/genetics/gene/ethe1 - Genetics
  7. BOLA3 gene 
    ... ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  8. NFU1 gene 
    ... ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  9. TMEM70 gene 
    ... as the brain and heart. Abnormal brain function (encephalopathy) and other neurological problems can occur. Another common feature of mitochondrial complex V deficiency, especially when caused by TMEM70 ...
    https://medlineplus.gov/genetics/gene/tmem70 - Genetics
  10. SERAC1 gene 
    ... I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
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