Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

Abstract 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 in...

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Bibliographic Details
Main Authors: Kristina Grigalionienė, Birutė Burnytė, Laima Ambrozaitytė, Algirdas Utkus
Format: Article
Language:English
Published: BMC 2023-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mitochondrial disease
mtDNA
nDNA
Genetic diagnosis
Variants
Next generation sequencing
Online Access:https://doi.org/10.1186/s13023-023-02921-0

Internet

https://doi.org/10.1186/s13023-023-02921-0

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