Skip to main content
SpringerLink
Log in
Book cover
  • Book
  • © 2013

Mitochondrial Disorders Caused by Nuclear Genes

Editors:

  1. Lee-Jun C. Wong

    1. , Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Covers recognizable syndromes and heterogeneous mitochondrial disease caused by specific genes

  • Readers will learn biochemical, molecular, clinical, and genetic aspects of the complex dual genome mitochondrial disorders

  • Examines different organs effected by mitochondrial disorder

  • Includes supplementary material: sn.pub/extras

Sections

Buy it now

eBook USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (21 chapters)

  1. Front Matter

    Pages 1-1
    PDF

  2. Overview

    1. Front Matter

      Pages 1-1
      PDF

    2. The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders

      • Salvatore DiMauro, Valentina Emmanuele
      Pages 3-25

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

    1. Front Matter

      Pages 47-47
      PDF

    4. Deoxyguanosine Kinase

      • David Paul Dimmock
      Pages 91-102

    8. Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability

      • Patrick Yu-Wai-Man, Guy Lenaers, Patrick F. Chinnery
      Pages 141-161

    9. Depletion of mtDNA with MMA: SUCLA2 and SUCLG1

      • Nelson Hawkins Jr, Brett H. Graham
      Pages 163-169

    10. RRM2B-Related Mitochondrial Disease

      • Gráinne S. Gorman, Robert D. S. Pitceathly, Douglass M. Turnbull, Robert W. Taylor
      Pages 171-182

  4. Complex Subunits and Assembly Genes

    1. Front Matter

      Pages 183-183
      PDF

    2. Complex Subunits and Assembly Genes: Complex I

      • Ann Saada (Reisch)
      Pages 185-202

    3. Mitochondrial Respiratory Chain Complex II

      • Jaya Ganesh, Lee-Jun C. Wong, Elizabeth B. Gorman
      Pages 203-218

    4. Mitochondrial Complex III Deficiency of Nuclear Origin:

      • Alberto Blázquez, Lorena Marín-Buera, María Morán, Alberto García-Bartolomé, Joaquín Arenas, Miguel A. Martín et al.
      Pages 219-238

    5. Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases

      • Flavia Fontanesi, Antoni Barrientos
      Pages 239-259

  5. Mitochondrial Protein Translation Related Diseases

    1. Front Matter

      Pages 261-261
      PDF
Back to top

About this book

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells.  In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.  Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.
Back to top

Editors and Affiliations

  • , Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA

    Lee-Jun C. Wong

Back to top

Bibliographic Information

  • Book Title: Mitochondrial Disorders Caused by Nuclear Genes

  • Editors: Lee-Jun C. Wong

  • DOI: https://doi.org/10.1007/978-1-4614-3722-2

  • Publisher: Springer New York, NY

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer Science+Business Media, LLC 2013

  • Hardcover ISBN: 978-1-4614-3721-5Published: 18 September 2012

  • Softcover ISBN: 978-1-4899-9241-3Published: 15 October 2014

  • eBook ISBN: 978-1-4614-3722-2Published: 18 September 2012

  • Edition Number: 1

  • Number of Pages: XII, 372

  • Topics: Human Genetics, Molecular Medicine, Biomedicine general

Back to top

Publish with us

Policies and ethics

Back to top
Access via your institution

Buy it now

eBook USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Search

Navigation