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  • © 2019

Diagnosis and Management of Mitochondrial Disorders

  • Comprehensively presents the state-of-the-art in mitochondrial medicine

  • Pursues a translational approach, from basic science to clinical practice

  • Written by the world’s foremost mitochondrial researchers

  • Highlights the latest advances in the field of mitochondrial medicine

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Table of contents (23 chapters)

  1. Front Matter

    Pages i-viii
  2. Mitochondrial Medicine: A Historical Point of View

    • Yi Shiau Ng, Salvatore DiMauro, Doug M. Turnbull
    Pages 1-18
  3. Mitochondria: Muscle Morphology

    • Monica Sciacco, Gigliola Fagiolari, Roberto Tironi, Lorenzo Peverelli, Maurizio Moggio
    Pages 19-40
  4. Mitochondrial Disease Genetics

    • Laura S. Kremer, Elizabeth M. McCormick, Holger Prokisch, Marni J. Falk
    Pages 41-62
  5. Epidemiology of Mitochondrial Disease

    • Andrew Schaefer, Albert Lim, Grainne Gorman
    Pages 63-79
  6. Myoclonus Epilepsy with Ragged-Red Fibers (MERRF)

    • Costanza Lamperti, Michelangelo Mancuso
    Pages 101-112
  7. Diseases of DNA Polymerase Gamma

    • Omar Hikmat, Pirjo Isohanni, Anu Suomalainen, Laurence A. Bindoff
    Pages 113-124
  8. Mitochondrial Optic Neuropathies

    • Valerio Carelli, Chiara La Morgia, Thomas Klopstock
    Pages 125-139
  9. Leigh Syndrome

    • Albert Zishen Lim, Robert McFarland
    Pages 151-167
  10. Coenzyme Q10 Deficiency

    • Catarina M. Quinzii, Luis Carlos Lopez
    Pages 169-182
  11. Mitochondrial Depletion Syndromes

    • Sumit Parikh, Rita Horvath
    Pages 183-204
  12. Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE)

    • Shufang Li, Ramon MartĂ­, Michio Hirano
    Pages 205-222
  13. Mitochondrial Neurodegenerative Disorders I: Parkinsonism and Cognitive Deficits

    • Yi Shiau Ng, Nichola Z. Lax, Laurence A. Bindoff, Doug M. Turnbull
    Pages 223-239
  14. Mitochondrial Heart Involvement

    • Anca R. Florian, Ali Yilmaz
    Pages 257-279
  15. Diagnostic Approach to Mitochondrial Diseases

    • Rita Horvath, Patrick F. Chinnery
    Pages 281-287
  16. Neuroimaging Findings in Primary Mitochondrial Cytopathies

    • CĂ©sar Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Fabricio Guimaraes Goncalves, Giulio Zuccoli
    Pages 289-316
  17. Outcome Measures and Quality of Life in Mitochondrial Diseases

    • S. Koene, C. Jimenez-Moreno, G. S. Gorman
    Pages 317-329

About this book

This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.

Editors and Affiliations

  • Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

  • Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

    Thomas Klopstock

About the editors


 

Dr. Mancuso is the head of the Centre of Clinical Neurogenetics  responsible for mitochondrial diseases and rare diseases at the Neurological Institute  of University of Pisa, Italy (Orphanet Center EUGTIT247621). He is actively involved in multiple projects mainly focusing on mitochondrial diseases. Dr. Mancuso is the Coordinator of the Italian Network of Mitochondrial Diseases, and is also a member of the International Consortium of Mitochondrial Diseases.

 

Dr. Klopstock is a Professor of Neurology and Consultant Physician, Friedrich-Baur-Institute, Dept. of Neurology, LMU Munich, Germany. He has extensive clinical and scientific expertise in mitochondrial and other neurogenetic disorders. He currently manages an outpatient clinic for neurogenetics, and is the coordinator of the German network for mitochondrial disorders (mitoNET), as well as a member of the International Consortium of Mitochondrial Diseases.


Bibliographic Information

  • Book Title: Diagnosis and Management of Mitochondrial Disorders

  • Editors: Michelangelo Mancuso, Thomas Klopstock

  • DOI: https://doi.org/10.1007/978-3-030-05517-2

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Nature Switzerland AG 2019

  • Hardcover ISBN: 978-3-030-05516-5Published: 16 May 2019

  • eBook ISBN: 978-3-030-05517-2Published: 03 May 2019

  • Edition Number: 1

  • Number of Pages: VIII, 382

  • Number of Illustrations: 33 b/w illustrations, 52 illustrations in colour

  • Topics: Neurology, Human Genetics, Internal Medicine

Buy it now

Buying options

eBook USD 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book USD 159.99
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