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 organelles with vital functions in almost all eukaryotic cells. Often
described as the cellular 'powerhouses' due to their essential role in aerobic oxidative …

Mitochondrial disease is hugely diverse with respect to associated clinical presentations and
underlying genetic causes, with pathogenic variants in over 300 disease genes currently …

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders
characterised by impaired oxidative phosphorylation. Diagnosis is challenging;> 350 genes …

Purpose The utility of genome sequencing (GS) in the diagnosis of suspected pediatric
mitochondrial disease (MD) was investigated. Methods An Australian cohort of 40 pediatric …

Background In about half of all patients with a suspected monogenic disease, genomic
investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive …

Given the rapidly decreasing cost and increasing speed and accessibility of massively
parallel technologies, the integration of comprehensive genomic, transcriptomic, and …

Next-generation sequencing (NGS) has increased our understanding of the molecular basis
of many primary mitochondrial diseases (PMDs). Despite this progress, many patients with …

Background Mitochondrial disorders are among the most common heritable diseases, with
an overall lifetime risk of approximately one in 1500. Nonetheless, their diagnosis is often …

Mitochondrial diseases are a genetically and phenotypically variable set of monogenic
disorders. The main characteristic of mitochondrial diseases is a defective oxidative …