Publications by authors named "Mathieu Berthet"
Article Synopsis
- - Whole mitochondrial DNA sequencing is now routinely used in clinical labs to identify mitochondrial disease in patients, aided by Next Generation Sequencing, which has revealed many new mtDNA variants.
- - Alongside an increase in identified pathogenic variants, there has also been a rise in variants of unknown significance (VUS), complicating their interpretation for patient treatment and counseling.
- - The study characterized eight heteroplasmic mtDNA variants, classifying some as "definitely pathogenic," while others remain "possibly pathogenic," showcasing the importance of single fiber studies in diagnosing low-level heteroplasmy cases.
