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Article

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

Archives of neurology - 1 Aug 2006

Oskoui Maryam, Davidzon Guido, Pascual Juan, Erazo Ricardo, Gurgel-Giannetti Juliana, Krishna Sindu, Bonilla Eduardo, De Vivo Darryl C, Shanske Sara, DiMauro Salvatore

Abstract excerpt

BACKGROUND: Mitochondrial DNA depletion syndrome is an autosomal recessive disorder characterized by decreased mitochondrial DNA copy numbers in affected tissues. It has been linked to 4 genes involved in deoxyribonucleotide triphosphate metabolism: thymidine kinase 2 (TK2), deoxyguanosine kinase (DGUOK), polymerase gamma (POLG), and SUCLA2, the gene encoding the beta-subunit of the adenosine diphosphate-forming...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16908738
DOI: 10.1001/archneur.63.8.1122

Genes

DGUOK
POLG
SUCLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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