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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík
Format: Artigo
Langue:Inglês
Publié: MDPI AG 2020-10-01
Collection:Brain Sciences
Sujets:
Kearns-Sayre Syndrome (KSS) Spectrum
Progressive External Ophthalmoplegia (PEO)
Pearson Syndrome
mtDNA
Single, Large-Scale Mitochondrial DNA Deletions (SLSMD)
Accès en ligne:https://www.mdpi.com/2076-3425/10/11/766
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires