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Results 1 - 8 of 8 for Mitochondrial DNA depletion syndrome 11
  1. Deoxyguanosine kinase deficiency 
    ... DGUOK deficiency National Organization for Rare Disorders (NORD) ... and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito.2006.11.010. Epub 2006 Dec 5. Citation on PubMed ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  2. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... 198-203. doi: 10.1016/j.nmd.2009.11.013. Epub 2010 Jan 18. Citation on PubMed ... of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  3. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... depletion syndrome National Organization for Rare Disorders (NORD) ... and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito.2006.11.010. Epub 2006 Dec 5. Citation on PubMed ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  4. TK2 gene 
    ... GP. New mutations in TK2 gene associated with mitochondrial DNA depletion. ... syndrome. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  5. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  6. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a ... thought to underlie the signs and symptoms of mitochondrial DNA depletion syndrome. It is unclear why some RRM2B gene mutations ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  7. TWNK gene 
    ... mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. POLG gene 
    ... Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition DNA polymerase subunit gamma-1 mitochondrial DNA polymerase catalytic subunit PolG, catalytic subunit PolG- ...
    https://medlineplus.gov/genetics/gene/polg - Genetics