Mitochondrial diseases, a diverse and intricate group of disorders, result from both nuclear
DNA and mitochondrial DNA malfunctions, leading to a decrease in cellular energy (ATP) …

Mitochondrial diseases are a complex and heterogeneous group of genetic disorders that
occur as a result of either nuclear DNA or mitochondrial DNA pathogenic variants, leading to …

Mitochondrial disorders represent a diverse and complex group of entities typified by
defective energy metabolism. The mitochondrial oxidative phosphorylation system is …

Mutations in either nuclear DNA or mitochondrial DNA can result in disruption of oxidative
phosphorylation and lead to mitochondrial dysfunction. Mitochondrial disease …

Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors
of metabolism in children, and they frequently affect the central nervous system …

The knowledge about the genetic spectrum underlying paediatric mitochondrial diseases is
rapidly growing. As a consequence, the range of neuroimaging findings associated with …

Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in
disease manifestations ranging from early death to abnormalities in all major organ systems …

Primary mitochondrial disorders remain uncommon, but they enter into the differential
diagnosis for a broad range of syndromes. Functional and structural imaging methods offer …

Mitochondrial disease represents a heterogeneous group of genetic disorders that require a
variety of diagnostic tests for proper determination. Neuroimaging may play a significant role …

The anatomic complexity of the brain in combination with its high energy demands makes
this organ specifically vulnerable to defects of mitochondrial oxidative phosphorylation …