Article

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

2026-06-15

Abstract excerpt

Genome sequencing of the heterogeneous primary mitochondrial disorders (PMD) frequently reveals variants of uncertain significance that require functional tests for diagnosis, and does not identify variants in all patients. We analyzed mitochondrial enzyme assays, blue native polyacrylamide gel electrophoresis (BN-PAGE) with in-gel activity staining, complex I assembly blot, and select protein abundances in fibrob...

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Literature Corpus work: 04c94792-22eb-5010-a10e-44986474bbe3
DOI: 10.64898/2026.06.12.26355546

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