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Autosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP)...

deoxycytidine monophosphate deoxythymidine monophosphate encephalomyopathy Therapy Thymidine Kinase Animals Deoxycytidine Monophosphate Gene Knock-In Techniques Mice Mitochondrial Diseases Survival Analysis Thymidine Kinase Thymidine Monophosphate Treatment Outcome

BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of...

Clinical genetics metabolic disorders muscle disease Neuromuscular disease Adolescent Adult Age of Onset Aged Child Child Preschool Female Genes Recessive Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant Newborn Male Middle Aged Mitochondrial Proteins Muscle Skeletal Muscular Diseases Mutation Phenotype Retrospective Studies Survival Analysis Thymidine Kinase Young Adult