Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort

Background Friedreich ataxia is a progressive multisystem disorder caused by deficiency of the protein frataxin; a small mitochondrial protein involved in iron sulfur cluster synthesis. Two types of frataxin exist: FXN-M, found in most cells, and FXN-E, found almost exclusively in red blood cells. T...

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