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Article

Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency.

Biochemical and biophysical research communications - 24 Oct 2003

Saada Ann, Ben-Shalom Efrat, Zyslin Rivka, Miller Chaya, Mandel Hanna, Elpeleg Orly

Abstract excerpt

Deficiency of mitochondrial thymidine kinase (TK2) is associated with mitochondrial DNA (mtDNA) depletion and manifests by severe skeletal myopathy in infancy. In order to elucidate the pathophysiology of this condition, mitochondrial deoxyribonucleoside triphosphate (dNTP) pools were determined in patients' fibroblasts. Despite normal mtDNA content and cytochrome c oxidase (COX) activity, mitochondrial dNTP...

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Identifiers

PMID: 14550298
DOI: 10.1016/j.bbrc.2003.09.104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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