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Article

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

Nucleic acids research - 22 Aug 2019

Lehmann Diana, Tuppen Helen A L, Campbell Georgia E, Alston Charlotte L, Lawless Conor, Rosa Hannah S, Rocha Mariana C, Reeve Amy K, Nicholls Thomas J, Deschauer Marcus, Zierz Stephan, Taylor Robert W, Turnbull Doug M, Vincent Amy E

Abstract excerpt

Clonal expansion of mitochondrial DNA (mtDNA) deletions is an important pathological mechanism in adults with mtDNA maintenance disorders, leading to a mosaic mitochondrial respiratory chain deficiency in skeletal muscle. This study had two aims: (i) to determine if different Mendelian mtDNA maintenance disorders showed similar pattern of mtDNA deletions and respiratory chain deficiency and (ii) to investigate...

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

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Identifiers

PMID: 31147703
DOI: 10.1093/nar/gkz472
PMCID: PMC6698645

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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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