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Article

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.

Human molecular genetics - 15 Jan 2010

D'Aurelio M, Vives-Bauza C, Davidson M M, Manfredi G

Abstract excerpt

Mutations in the mitochondrial DNA (mtDNA) encoded subunit 6 of ATPase (ATP6) are associated with variable disease expression, ranging from adult onset neuropathy, ataxia and retinitis pigmentosa (NARP) to fatal childhood maternally inherited Leigh's syndrome (MILS). Phenotypical variations have largely been attributed to mtDNA heteroplasmy. However, there is often a discrepancy between the levels of mutant mtDNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19875463
DOI: 10.1093/hmg/ddp503
PMCID: PMC2796897

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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