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Article

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Human molecular genetics - 15 Jun 2007

Ashley Neil, Adams Susan, Slama Abdelhamid, Zeviani Massimo, Suomalainen Anu, Andreu Antonio L, Naviaux Robert K, Poulton Joanna

Abstract excerpt

Defects in mtDNA maintenance range from fatal multisystem childhood diseases, such as Alpers syndrome, to milder diseases in adults, including mtDNA depletion syndromes (MDS) and familial progressive external ophthalmoplegia (AdPEO). Most are associated with defects in genes involved in mitochondrial deoxynucleotide metabolism or utilization, such as mutations in thymidine kinase 2 (TK2) as well as the mtDNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17483096
DOI: 10.1093/hmg/ddm090

Genes

POLG

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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