SCIENTIFIC LITERATURE · MED

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

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