Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 4 of 4 for Mitochondrial DNA depletion syndrome 18
  1. DGUOK gene 
    ... The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221- ... H, Setzer B, Walker UA, Horvath R. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol. ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  2. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an ... mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord. 2008 Jul;18(7):557-60. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  3. 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
  4. 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