Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Kristina GrigalionienėBirutė BurnytėLaima AmbrozaitytėAlgirdas UtkusPublished in: Orphanet journal of rare diseases (2023)
The wide spectrum of identified rare mitochondrial or neurodevelopmental diseases proves that MD suspected patients would mostly benefit from an extensive genetic profiling allowing rapid diagnostics and improving the care of these patients.