Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This …

Mitochondrial disease confirmation and establishment of a specific molecular diagnosis
requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial …

Opinion statement The treatment of mitochondrial disease varies considerably. Most experts
use a combination of vitamins, optimize patients' nutrition and general health, and prevent …

The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …

Notorious variability in the presentation of mitochondrial disease in the infant and young
child complicates its clinical diagnosis. Mitochondrial disease is not a single entity but …

Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration
characterized by severe vision loss,. Two-thirds of LCA cases are caused by mutations in 17 …

N-methyl-D-aspartate receptors (NMDARs) are ligand-gated cation channels that mediate
excitatory synaptic transmission. Genetic mutations in multiple NMDAR subunits cause …

Primary cilia are sensory organelles present on most mammalian cells. The assembly and
maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional …

Whole-exome sequencing and autozygosity mapping studies, independently performed in
subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a …

We have designed mitochondrially targeted transcription activator-like effector nucleases or
mitoTALENs to cleave specific sequences in the mitochondrial DNA (mtDNA) with the goal …