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

Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy
or early childhood. However, also late-onset cases have been reported. Since its first …

Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle
weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive …

Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial
genes, encoding mitochondrial proteins, or non-protein-coding mitochondrial RNA. Despite …

Leigh syndrome is a progressive neurodegenerative disorder, affecting 1 in 40,000 live
births. Most patients present with symptoms between the ages of three and twelve months …

Objectives One of the most frequently affected organs in mitochondrial disorders (MIDs),
defined as hereditary diseases due to affection of the mitochondrial energy metabolism, is …

Mitochondrial diseases display pathological phenotypes according to the mixture of mutant
versus wild-type mitochondrial DNA (mtDNA), known as heteroplasmy. We herein examined …

BACKGROUND: The cause of hypertrophic cardiomyopathy (HCM) in the young is highly
varied. Ventricular preexcitation (preexcitation) is well recognized, yet little is known about …

Genetic polymorphisms, in concert with well-characterized etiology and progression of major
pathologies, plays a significant role in aberrant processes afflicting human populations …

Pearson syndrome (PS) is a very rare and often fatal multisystemic mitochondrial disorder
involving the liver, kidney, pancreas, and hematopoietic and central nervous system. It is …