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Results 1 - 5 of 5 for Mitochondrial DNA depletion syndrome 1
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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