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Article

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Methods (San Diego, Calif.) - 1 Aug 2010

Cohen Bruce H, Naviaux Robert K

Abstract excerpt

Disorders of oxidative phosphorylation and mitochondrial function can be caused from mutations involving both mitochondrial DNA (mtDNA) or mitochondrial-targeted nuclear DNA genes. Progressive depletion of mtDNA is one mechanism of mitochondrial dysfunction leading to human disease, which is the end result of loss of the sufficient mtDNA-encoded proteins for normal electron transport chain function. Mitochondrial...

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Source

Identifiers

PMID: 20558295
DOI: 10.1016/j.ymeth.2010.05.008

Genes

POLG
DGUOK
MPV17
POLG2
SUCLA2

Provenance

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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