Using urine to diagnose large-scale mtDNA deletions in adult patients.
Kristin N VarhaugGonzalo S NidoIrenaeus F M de CooPirjo IsohanniAnu SuomalainenCharalampos TzoulisPer KnappskogLaurence A BindoffPublished in: Annals of clinical and translational neurology (2020)
Our findings suggest that urine can be used to screen patients suspected clinically of having a single mtDNA deletion. Based on our data, the use of urine could considerably reduce the need for muscle biopsy in this patient group.