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Article

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Clinical chemistry - 1 Jul 2010

Dimmock David, Tang Lin-Ya, Schmitt Eric S, Wong Lee-Jun C

Abstract excerpt

BACKGROUND: The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are autosomal recessive disorders characterized by a reduction in cellular mtDNA content. Mutations in at least 9 genes [POLG, polymerase (DNA directed), gamma; DGUOK, deoxyguanosine kinase; TK2, thymidine kinase, mitochondrial; TYMP, thymidine phosphorylase; MPV17, MpV17 mitochondrial inner membrane protein; SUCLA2, succinate-CoA ligase,...

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Source

Identifiers

PMID: 20448188
DOI: 10.1373/clinchem.2009.141549

Genes

MPV17
POLG
DGUOK
SUCLA2
SUCLG1
TYMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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