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mtDNA Depletion Syndrome (Hepatocerebral)

Prevalence: 1/200000
mitochondrial
Official·OMIM:251880Official·ORPHA254902

Hepatocerebral mitochondrial DNA depletion syndrome due to DGUOK gene mutations.

Associated Genes

DGUOKDeoxyguanosine Kinase
Chromosome 2Autosomal Recessive