2013

Mitochondrial Disorders Caused by Nuclear Genes

Editors:

ISBN: 978-1-4614-3721-5 (Print) 978-1-4614-3722-2 (Online)

Table of contents (21 chapters)

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  1. Front Matter

    Pages 1-1

  2. Overview

    1. Front Matter

      Pages 1-1

    2. No Access

      Book Chapter

      Pages 3-25

      The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders

    3. No Access

      Book Chapter

      Pages 27-45

      Biochemical and Molecular Methods for the Study of Mitochondrial Disorders

  3. Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity

    1. Front Matter

      Pages 47-47

    2. No Access

      Book Chapter

      Pages 49-72

      Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions

    3. No Access

      Book Chapter

      Pages 73-89

      Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease

    4. No Access

      Book Chapter

      Pages 91-102

      Deoxyguanosine Kinase

    5. No Access

      Book Chapter

      Pages 103-112

      MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome

    6. No Access

      Book Chapter

      Pages 113-121

      Mitochondrial DNA Depletion due to Mutations in the TK2 Gene

    7. No Access

      Book Chapter

      Pages 123-140

      Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)

    8. No Access

      Book Chapter

      Pages 141-161

      Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability

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      Book Chapter

      Pages 163-169

      Depletion of mtDNA with MMA: SUCLA2 and SUCLG1

    10. No Access

      Book Chapter

      Pages 171-182

      RRM2B-Related Mitochondrial Disease

  4. Complex Subunits and Assembly Genes

    1. Front Matter

      Pages 183-183

    2. No Access

      Book Chapter

      Pages 185-202

      Complex Subunits and Assembly Genes: Complex I

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      Book Chapter

      Pages 203-218

      Mitochondrial Respiratory Chain Complex II

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      Book Chapter

      Pages 219-238

      Mitochondrial Complex III Deficiency of Nuclear Origin:

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      Book Chapter

      Pages 239-259

      Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases

  5. Mitochondrial Protein Translation Related Diseases

    1. Front Matter

      Pages 261-261

    2. No Access

      Book Chapter

      Pages 263-276

      Mitochondrial Aminoacyl-tRNA Synthetases

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      Book Chapter

      Pages 277-285

      Mitochondrial Protein Translation-Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors

    4. No Access

      Book Chapter

      Pages 287-297

      Disorders of Mitochondrial RNA Modification

  6. Others

    1. Front Matter

      Pages 299-299

    2. No Access

      Book Chapter

      Pages 301-317

      Pyruvate Dehydrogenase Complex Deficiencies

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      Book Chapter

      Pages 319-335

      Nuclear Genes Causing Mitochondrial Cardiomyopathy

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