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Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing

24 Dec 2020

Abstract excerpt

Muscle pathology in inclusion body myositis (IBM) typically includes inflammatory cell infiltration, muscle fibers with rimmed vacuoles and cytochrome c oxidase (COX)-deficient fibers. Previous studies have revealed clonal expansion of large mitochondrial DNA (mtDNA) deletions in the COX-deficient muscle fibers. Technical limitations have prevented complete investigations of the mtDNA deletions and other mtDNA...

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PMID: 33354847
DOI: 10.1111/bpa.12931

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