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Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

BACKGROUND: Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by pathogenic variants in more than 400 genes. The implementation of next-generation sequencing (NGS) technologies helps to increase t...

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Detalles Bibliográficos
Autores principales:	Grigalionienė, Kristina, Burnytė, Birutė, Ambrozaitytė, Laima, Utkus, Algirdas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544509/ https://www.ncbi.nlm.nih.gov/pubmed/37784170 http://dx.doi.org/10.1186/s13023-023-02921-0

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