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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3e72b7fd710c4ee99a5e5785ae11b6f4

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

About this item

Full title

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

Publisher

United States: John Wiley & Sons, Inc

Journal title

Annals of clinical and translational neurology, 2020-08, Vol.7 (8), p.1318-1326

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

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 sediment cells were used to isolate DNA, wh...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_3e72b7fd710c4ee99a5e5785ae11b6f4

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3e72b7fd710c4ee99a5e5785ae11b6f4

Other Identifiers

ISSN

2328-9503

E-ISSN

2328-9503

DOI

10.1002/acn3.51119

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