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Results 1 - 10 of 13 for Mitochondrial DNA depletion syndrome 1
  1. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome 4b ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  2. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... neurohepatopathy is estimated to occur in 1 in 1,600 newborns. As the condition name suggests, mutations in the MPV17 gene cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The protein produced from the MPV17 gene is ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... DGUOK deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 PubMed Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. TWNK gene 
    ... frame 2 PEO1 PEO1_HUMAN progressive external ophthalmoplegia 1 protein T7 gp4-like protein with intramitochondrial nucleoid localization T7-like 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
  5. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... depletion syndrome National Organization for Rare Disorders (NORD) ... Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito. ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  6. DGUOK gene 
    ... H, Setzer B, Walker UA, Horvath R. Hepatocerebral mitochondrial DNA depletion ... Mol Genet Metab. 2024 Sep-Oct;143(1-2):108554. doi: 10.1016/j.ymgme.2024. ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  7. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy Mitochondrial DNA depletion syndrome 13, encephalomyopathic type MTDPS13 Genetic Testing Registry: Mitochondrial ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  8. Infantile-onset spinocerebellar ataxia 
    ... Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  9. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an ... kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain. 2008 ... 1 and mitochondrial thymidine kinase 2: a mini review. Nucleosides Nucleotides ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  10. 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
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