Mitochondrial Disorders Caused by Nuclear Genes (eBook)

Part 1: Overview.- The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders.- Biochemical and Molecular Methods for the Study of Mitochondrial Disorders.- Part 2: Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity.- Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions.- Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease.- Deoxyguanosine Kinase.- MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome.- Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1).- Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability.- Depletion of mtDNA with MMA: SUCLA2 and SUCLG1.- RRM2B-Related Mitochondrial Disease.- Part 3: Complex Subunits and Assembly Genes.- Complex Subunits and Assembly Genes: Complex I.- Mitochondrial Respiratory Chain Complex II.- Mitochondrial Complex III Deficiency of Nuclear Origin: Molecular Basis, Pathophysiological Mechanisms and Mouse Models.- Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases.- Part 4: Mitochondrial Protein Translation Related Diseases.- Mitochondrial Aminoacyl-tRNA Synthetases.- Mitochondrial Protein Translation Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors.- Disorders of Mitochondrial RNA Modification.- Part 5: Others.- Pyruvate Dehydrogenase Complex Deficiencies.- Nuclear Genes Causing Mitochondrial Cardiomyopathy.- Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins.- Index.