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Characterization of a <i>UQCRC1</i> variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation.

Piroli GG, Myers R, Holloway L, Hayek A, Linebaugh E, Jones JR, Skinner C, Skinner SA, Frizzell N, Steet R.

Mol Genet Metab Rep · 2026-02-25

DOI: 10.1016/j.ymgmr.2026.101302PMID: 41783485

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

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