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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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Varhaug, Kristin N., Nido, Gonzalo S., de Coo, Irenaeus, Isohanni, Pirjo, Suomalainen, Anu, Tzoulis, Charalampos, Knappskog, Per, Bindoff, Laurence A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Acesso em linha: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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