Using urine to diagnose large‐scale mtDNA deletions in adult patients

Abstract Objective The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. Methods Eleven adult patients with progressive external ophthalmoplegia and a known single mtDNA deletion were investigated. U...

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Bibliographic Details
Main Authors: Kristin N. Varhaug, Gonzalo S. Nido, Irenaeus deCoo, Pirjo Isohanni, Anu Suomalainen, Charalampos Tzoulis, Per Knappskog, Laurence A. Bindoff
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51119