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Results 1 - 10 of 14 for Mitochondrial DNA depletion "syndrome," encephalomyopathy form
  1. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion ... weakness (encephalomyopathy) and a problem with kidney function known as ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  2. 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
  3. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  4. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe ... of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  5. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome, encephalomyopathic form with or without methylmalonic aciduria, autosomal recessive, SUCLA2- ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  6. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... coenzyme A ligase deficiency SUCLG1 deficiency SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria SUCLG1-related succinyl-CoA ligase ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  7. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies National Organization for Rare ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  8. SUCLA2 gene 
    ... PubMed El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [updated 2023 ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  9. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... DNA depletion syndrome 4b 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
  10. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
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