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...

Descripción completa

Detalles Bibliográficos
Autores principales: Varhaug, Kristin N., Nido, Gonzalo S., de Coo, Irenaeus, Isohanni, Pirjo, Suomalainen, Anu, Tzoulis, Charalampos, Knappskog, Per, Bindoff, Laurence A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448145/
https://www.ncbi.nlm.nih.gov/pubmed/32634300
http://dx.doi.org/10.1002/acn3.51119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448145/
https://www.ncbi.nlm.nih.gov/pubmed/32634300
http://dx.doi.org/10.1002/acn3.51119

Ejemplares similares