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Results 11 - 20 of 37 for Mitochondrial depletion
  1. Kearns-Sayre Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Eye Diseases/Specifics ... Eye Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... National Institute of Neurological Disorders and Stroke ... From ...
    https://www.ninds.nih.gov/...ondrial-disorders#kearns-sayre-syndrome - External Health Links
  2. MPV17 gene 
    ... have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and ... the MPV17 protein that cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, including the R50Q mutation, impair protein function ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  3. DGUOK gene 
    ... The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3): ... F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  4. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  5. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is ... mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord. 2008 Jul;18(7):557- ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  6. SUCLG1 gene 
    ... PubMed El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar ... A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet. 2007 Aug;81(2): ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  7. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
  8. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), ... thought to underlie the signs and symptoms of mitochondrial DNA depletion syndrome. It is unclear why some RRM2B gene ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  9. FBXL4 gene 
    ... El-Hattab AW, Wong LJC. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Adam MP, Feldman ... in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr;91(4):634- ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  10. SUCLA2 gene 
    ... PubMed El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May ... CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005 Jun;76(6): ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
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