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...

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Detalles Bibliográficos
Autores principales: Anteneová, Nicole, Kelifová, Silvie, Kolářová, Hana, Vondráčková, Alžběta, Tóthová, Iveta, Lišková, Petra, Magner, Martin, Zámečník, Josef, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta, Honzík, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690373/
https://www.ncbi.nlm.nih.gov/pubmed/33105723
http://dx.doi.org/10.3390/brainsci10110766

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690373/
https://www.ncbi.nlm.nih.gov/pubmed/33105723
http://dx.doi.org/10.3390/brainsci10110766

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