The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

Background: In this retrospective study, we analysed clinical, biochemical and molecular genetic data of 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD). Methods: The diagnosis was based on the long-range PCR (LX-PCR) screening of mtDNA isolated from muscle biopsy in 1...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI AG 2020-10-01
Serie:Brain Sciences
Ämnen:
Kearns-Sayre Syndrome (KSS) Spectrum
Progressive External Ophthalmoplegia (PEO)
Pearson Syndrome
mtDNA
Single, Large-Scale Mitochondrial DNA Deletions (SLSMD)
Länkar:https://www.mdpi.com/2076-3425/10/11/766
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk