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

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 disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

Background Whole-exome sequencing (WES) has led to an exponential increase in
identification of causative variants in mitochondrial disorders (MD). Methods We performed …

Complex I (NADH: ubiquinone oxidoreductase) is the largest multimeric enzyme complex of
the mitochondrial respiratory chain, which is responsible for electron transport and the …

Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood,
accounting for up to 30% of cases. As with many mitochondrial disorders, complex I …

The mitochondrial oxidative phosphorylation (OXPHOS) system is the final biochemical
pathway in the production of ATP. The OXPHOS system consists of five multiprotein …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …

Alexander disease is a rare disorder of the central nervous system of unknown etiology 1, 2.
Infants with Alexander disease develop a leukoencephalopathy with macrocephaly …