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

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. Urinary...

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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: Varhaug, Kristin N., Nido, Gonzalo S., de Coo, Irenaeus, Isohanni, Pirjo, Suomalainen, Anu, Tzoulis, Charalampos, Knappskog, Per, Bindoff, Laurence A.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7448145/
https://ncbi.nlm.nih.gov/pubmed/32634300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51119
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