Most of the genetic information has been lost or transferred to the nucleus during the
evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that …

Mitochondria are membrane bound organelles present in almost all eukaryotic cells.
Responsible for orchestrating cellular energy production, they are central to the …

Mutations in the human mitochondrial genome are known to cause an array of diverse
disorders, most of which are maternally inherited, and all of which are associated with …

Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …

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

We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees,
35 with a firm diagnosis and 32 with some atypical features. Biochemical or DNA defects …

Publisher Summary This chapter discusses the methods of assessment of mitochondrial
oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial …

Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally
symmetrical necrotic lesions in subcortical brain regions that is commonly associated with …

During the past decade, there have been many descriptions of patients with neurological
disorders due to mitochondrial DNA (mtDNA) mutations, but the extent and spectrum of …

This review focuses on mutations of mitochondrial DNA (mtDNA) which are an important
cause of mitochondrial disorders in humans and are also associated with common …