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.

Mol Genet Metab Rep · 2026 · PMC12954188 · PMID 41783485

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showed a trendno p-value reported

In addition, the glycolytic reserve showed a trend to increase by LPS in C1 cells, and a significant increase in C2 cells (58.3%, p < 0.05), but no changes were observed in P1 and P2 cells (Figs.

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

The sentences

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.