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Article

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

17 Jul 2018

Abstract excerpt

OBJECTIVE: In patients with mitochondrial DNA (mtDNA) maintenance disorders and with aging, mtDNA deletions sporadically form and clonally expand within individual muscle fibers, causing respiratory chain deficiency. This study aimed to identify the sub-cellular origin and potential mechanisms underlying this process. METHODS: Serial skeletal muscle cryosections from patients with multiple mtDNA deletions were...

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PMID: 30014514
DOI: 10.1002/ana.25288

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