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Article

Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions.

American journal of medical genetics. Part A - 30 Apr 2003

Odoardi Francesca, Rana Michele, Broccolini Aldobrando, Mirabella Massimiliano, Modoni Anna, D'Amico Adele, Papacci Manuela, Tonali Pietro, Servidei Serenella, Silvestri Gabriella

Abstract excerpt

We estimated the frequency of multiple mtDNA rearrangements by Southern blot in 32 patients affected by mitochondrial disorders associated with single deletions in order to assess genotype-phenotype correlations and elucidate the pathogenic significance of mtDNA duplications. Muscle in situ hybridization studies were performed in patients showing mtDNA duplications at Southern blot. We found multiple...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12673655
DOI: 10.1002/ajmg.a.20006

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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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