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Results 1 - 7 of 7 for Mitochondrial DNA depletion "syndrome," encephalomyopathic form
  1. 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. ...
  2. ... not show signs and symptoms of the condition. Mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria Mitochondrial DNA depletion, encephalomyopathic ...
  3. ... DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Disease InfoSearch National Organization ...
  4. ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a severe condition ...
  5. ... ClinVar El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. In: Adam ...
  6. 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 ...
  7. ... MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A MITOCHONDRIAL DNA DEPLETION ...