Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Across a variety of Mendelian disorders,∼ 50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …

Mitochondrial disorders represent a large collection of rare syndromes that are difficult to
manage both because we do not fully understand biochemical pathogenesis and because …

Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

Inherited disorders of oxidative phosphorylation cause the clinically and genetically
heterogeneous diseases known as mitochondrial energy generation disorders, or …

Mitochondrial disorders have the highest incidence among congenital metabolic disorders
characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 …

Mitochondrial disease is a challenging area of genetics because two distinct genomes can
contribute to disease pathogenesis. It is also challenging clinically because of the myriad of …

Mitochondria are multifaceted organelles with key roles in anabolic and catabolic
metabolism, bioenergetics, cellular signalling and nutrient sensing, and programmed cell …