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Mitochondrial DNA depletion syndrome 11
- ... 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 ...
- ... 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 ...
- ... mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK ...
- ... 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- ...