Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature

Keyphrases

• Fibroblasts 100%
• ADCK3 100%
• Coenzyme Q Deficiency 100%
• Biochemical Assessment 50%
• CoQ10 Deficiency 50%
• Next-generation Sequencing 25%
• Early Onset 25%
• Late-onset 25%
• Enzymatic Activity 25%
• Nuclear Family 25%
• Clinical Manifestations 25%
• Coenzyme Q10 25%
• Novel mutation 25%
• Oxygen Radicals 25%
• Multiple Tissues 25%
• Gene mutation 25%
• Phenotypic Variation 25%
• Clinical Investigation 25%
• Patient Cells 25%
• Decreased Activity 25%
• ATP Production 25%
• Spinocerebellar Ataxia 25%
• Compound Heterozygous mutation 25%
• Variable Severity 25%
• Variable Presentations 25%
• Cytochrome c Reductase 25%
• Succinate 25%
• Ubiquinone 25%
• Genetic Investigation 25%
• Autosomal Recessive Cerebellar Ataxia 25%
• Mitochondrial Respiratory Chain Disorder 25%
• Mitochondrial Respiratory Chain Enzymes 25%

Biochemistry, Genetics and Molecular Biology

• Coenzyme 100%
• Fibroblast 100%
• Electron Transport Chain 100%
• Genetics 50%
• Ubiquinone 50%
• Coenzyme Q10 50%
• Enzyme 50%
• Enzyme Activity 50%
• Infancy 50%
• Gene Mutation 50%
• Autosomal Recessive Inheritance 50%
• Adenosine Triphosphate 50%
• Succinate Dehydrogenase 50%