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Article

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.

Orphanet journal of rare diseases - 2 Oct 2023

Grigalionienė Kristina, Burnytė Birutė, Ambrozaitytė Laima, Utkus Algirdas

Abstract excerpt

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 the understanding of molecular basis and diagnostic yield of these conditions. The purpose of the study was to...

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PMID: 37784170
DOI: 10.1186/s13023-023-02921-0
PMCID: PMC10544509

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