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Results 1 - 10 of 23 for Mitochondrial encephalomyopathy
  1. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
  2. Primary coenzyme Q10 deficiency 
    ... causes severe brain dysfunction combined with muscle weakness (encephalomyopathy) and the ... CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2): ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  3. MT-TV gene 
    ... TV gene are a very rare cause of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Most cases of MELAS are caused by mutations in other mitochondrial genes, but a small number of cases resulting ...
    https://medlineplus.gov/genetics/gene/mt-tv - Genetics
  4. Mitochondrial DNA 
    ... MT-TV, can cause the characteristic features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Some ... and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev. 1996 May- ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  5. MT-TH gene 
    ... small number of people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) have a mutation in the MT-TH gene. This condition is characterized by recurrent ... mitochondrial disorder called myoclonic epilepsy with ragged-red fibers ( ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  6. MT-TK gene 
    ... and some features of another mitochondrial disorder called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These ... and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev. 1996 May- ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  7. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain. 2007 Mar;130(Pt 3):853-61. doi: 10.1093/brain/awl383. Epub 2007 ... features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis. 2009 ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  8. SUCLA2 gene 
    ... Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  9. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Citation on ... with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  10. FBXL4 gene 
    ... FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 5;93( ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
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