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Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

7 May 2015

Abstract excerpt

Thymidine kinase 2 (TK2) is a mitochondrial enzyme participating in the salvage of deoxyribonucleotides needed for mitochondrial DNA (mtDNA) replication. TK2 catalyzes the first and rate-limiting step of the deoxypyrimidine salvage pathway. Mutations in TK2 were typically associated with a severe myopathic form of mtDNA depletion syndrome (MDS) characterized by a dramatic decrease in mtDNA copy number in muscle...

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PMID: 25948719
DOI: 10.1212/wnl.0000000000001644

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