Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Mitochondrial diseases are a genetically and phenotypically variable set of monogenic
disorders. The main characteristic of mitochondrial diseases is a defective oxidative …

Results: In total, 260 indeterminate PALF patients from 19 countries were recruited between
2011 and 2022, of whom 59 had recurrent PALF. WES established a genetic diagnosis in …

Objective ATP synthase (ATPase) is responsible for the majority of ATP production.
Nevertheless, disease phenotypes associated with mutations in ATPase subunits are …

By lack of functional evidence, genome-based diagnostic rates cap at approximately 50%
across diverse Mendelian diseases. Here, we demonstrate the effectiveness of combining …

Objective Leigh syndrome (LS) is a heterogeneous neurodegenerative disease and the
most frequent pediatric manifestation of mitochondrial disease. In the largest patient …

The determination of the functional impact of variants of uncertain significance (VUS) is one
of the major bottlenecks in the diagnostic workflow of inherited genetic diseases. To face this …

Pathogenic variants in both mitochondrial and nuclear genes contribute to the clinical and
genetic heterogeneity of mitochondrial diseases. There are now pathogenic variants in over …

Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group
of inherited disorders with a prevalence of about 1: 5 000 live births. A common sign of those …

Митохондриальные заболевания-клинически и генетически гетерогенная группа
заболеваний, возникающих в результате нарушения окислительного …