دانلود کتاب Mitochondrial Disorders Caused by Nuclear Genes

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Front Matter....Pages 1-1
Front Matter....Pages 1-1
The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders....Pages 3-25
Biochemical and Molecular Methods for the Study of Mitochondrial Disorders....Pages 27-45
Front Matter....Pages 47-47
Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions....Pages 49-72
Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease....Pages 73-89
Deoxyguanosine Kinase....Pages 91-102
MPV17 -Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome....Pages 103-112
Mitochondrial DNA Depletion due to Mutations in the TK2 Gene....Pages 113-121
Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)....Pages 123-140
Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability....Pages 141-161
Depletion of mtDNA with MMA: SUCLA2 and SUCLG1 ....Pages 163-169
RRM2B -Related Mitochondrial Disease....Pages 171-182
Front Matter....Pages 183-183
Complex Subunits and Assembly Genes: Complex I....Pages 185-202
Mitochondrial Respiratory Chain Complex II....Pages 203-218
Mitochondrial Complex III Deficiency of Nuclear Origin:....Pages 219-238
Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases....Pages 239-259
Front Matter....Pages 261-261
Mitochondrial Aminoacyl-tRNA Synthetases....Pages 263-276
Mitochondrial Protein Translation-Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors....Pages 277-285
Disorders of Mitochondrial RNA Modification....Pages 287-297
Front Matter....Pages 299-299
Pyruvate Dehydrogenase Complex Deficiencies....Pages 301-317
Nuclear Genes Causing Mitochondrial Cardiomyopathy....Pages 319-335
Front Matter....Pages 299-299
Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins....Pages 337-366
Back Matter....Pages 352-352