Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

Medicine & Life Sciences

• Mitochondrial Encephalomyopathies 100%
• Ubiquinone 87%
• coenzyme Q10 63%
• Mitochondrial Diseases 40%
• Mutation 36%
• Coenzyme Q10 Deficiency 27%
• Cerebellar Hypoplasia 24%
• Lactic Acidosis 20%
• Muscle Hypotonia 19%
• Gliosis 19%
• Whole Exome Sequencing 19%
• Electron Transport 17%
• Missense Mutation 16%
• Cardiomyopathies 15%
• High-Throughput Nucleotide Sequencing 15%
• Brain Diseases 15%
• Brain Stem 14%
• Atrophy 14%
• Electroencephalography 13%
• Autopsy 13%
• Seizures 12%
• Interviews 10%
• Neurons 9%
• Phenotype 9%
• Mortality 8%
• Genes 6%
• Population 6%