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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI AG 2020-10-01
Cyfres:Brain Sciences
Pynciau:
Kearns-Sayre Syndrome (KSS) Spectrum
Progressive External Ophthalmoplegia (PEO)
Pearson Syndrome
mtDNA
Single, Large-Scale Mitochondrial DNA Deletions (SLSMD)
Mynediad Ar-lein:https://www.mdpi.com/2076-3425/10/11/766
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