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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...

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Share to Diffuse Cerebral Sclerosis of Schilder
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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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 2 Sept 2026. Prepared record publication-20558295-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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