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Article

Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature.

Molecular genetics and metabolism - 1 Mar 2026

Barca Emanuele, Jacoby Nuri, Naini Ali, Miller Michael L, Emmanuele Valentina, Winfree Christopher J, Tadesse Saba, Tanji Kurenai, Hirano Michio

Abstract excerpt

Rhabdomyolysis can be due to mitochondrial myopathy, but mitochondrial DNA (mtDNA) pathogenic variants are often overlooked in standard genetic panels. We report a 41-year-old woman with recurrent rhabdomyolysis due to a novel MT-CO3 variant. Muscle biopsy showed cytochrome c oxidase-negative fibers that segregated with high heteroplasmic load on single-fiber. We additionally review previously reported mtDNA...

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PMID: 41679129
DOI: 10.1016/j.ymgme.2026.109767

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