Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

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 …

Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and
involved in various aspects of cellular life, with a primary role in energy production. The …

The assembly of the five oxidative phosphorylation system (OXPHOS) complexes in the
inner mitochondrial membrane is an intricate process. The human enzymes comprise core …

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

Mitochondrial cytochrome c oxidase (COX) is the primary site of cellular oxygen
consumption and is essential for aerobic energy generation in the form of ATP. Human COX …

Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early
childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The …

Seizures are often the key manifestation of neurological diseases caused by pathogenic
mutations in 169 of the genes that have so far been identified to affect mitochondrial …

Cytochrome c oxidase (COX) deficiency is characterized by a high degree of genetic and
phenotypic heterogeneity, partly reflecting the extreme structural complexity, multiple post …

As with other mitochondrial respiratory chain components, marked clinical and genetic
heterogeneity is observed in patients with a cytochrome c oxidase deficiency. This …