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Results 1 - 10 of 10 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. 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
  4. 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
  5. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... B, Salmani TA, Ghaedi H. SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature. Mol Biol Rep. 2020 Dec;47(12):9699-9714. doi: 10.1007/s11033-020-05999-y. Epub ... lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet. 2007 Aug; ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  6. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... Genetic Testing Registry: Mitochondrial DNA depletion syndrome 8a Mitochondrial neurogastrointestinal encephalomyopathy National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  7. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    RRM2B-related mitochondrial DNA ... have a kidney dysfunction known as renal tubulopathy.Infants with RRM2B-MDS have weak ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  8. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... mutations in the TK2 gene associated with fatal mitochondrial DNA depletion ... encephalomyopathy and severe mtDNA depletion. Neuromuscul Disord. 2010 Mar; ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  9. ACAD9 deficiency 
    ... signs and symptoms of ACAD9 deficiency, such as encephalomyopathy and hypertrophic cardiomyopathy. Although ... Genetic ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  10. Cytochrome c oxidase deficiency 
    ... multiple body systems, often including severe brain dysfunction ... of DNA is known as mitochondrial DNA (mtDNA). Most cases of cytochrome c oxidase ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics