Mitochondrial disorders are clinical syndromes associated with abnormalities of the
oxidative phosphorylation (OXPHOS) system, the main responsible for the production of …

Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically
heterogeneous diseases. This is because protein components of the RC are encoded by …

The structural biogenesis and functional proficiency of the multiheteromeric complexes
forming the mitochondrial oxidative phosphorylation system (OXPHOS) require the …

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 …

We report mutations in SDHAF1, encoding a new LYR-motif protein, in infantile
leukoencephalopathy with defective succinate dehydrogenase (SDH, complex II). Disruption …

In the large group of genetically undetermined infantile-onset mitochondrial
encephalopathies, multiple defects of mitochondrial DNA-related respiratory-chain …

We investigated two male infant patients who were given a diagnosis of progressive
mitochondrial encephalomyopathy on the basis of clinical, biochemical, and morphological …

Objectives: The study was focused on leukoencephalopathies of unknown cause in order to
define a novel, homogeneous phenotype suggestive of a common genetic defect, based on …

It has been proposed that European mitochondrial DNA (mtDNA) haplogroups J and K, and
their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene, are protective …

Dysfunction of mitochondrial respiration is an increasingly recognized cause of isolated
hypertrophic cardiomyopathy. To gain insight into the genetic origin of this condition, we …