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Results 1 - 9 of 9 for Mitochondrial DNA depletion "syndrome," encephalomyopathic form
  1. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple body systems. ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  2. 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
  3. 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
  4. 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
  5. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a severe condition ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  6. SUCLG1 gene 
    ... PubMed El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. In: Adam ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  7. 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
  8. FBXL4 gene 
    The FBXL4 gene provides instructions for making a member of a family of proteins called F-box and leucine rich repeat proteins. Like other members of this ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  9. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A MITOCHONDRIAL DNA DEPLETION ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics