Diagnosis and Management of Mitochondrial Disorders

  • Michelangelo Mancuso
  • Thomas Klopstock

Table of contents

  1. Front Matter
    Pages i-viii
  2. Yi Shiau Ng, Salvatore DiMauro, Doug M. Turnbull
    Pages 1-18
  3. Monica Sciacco, Gigliola Fagiolari, Roberto Tironi, Lorenzo Peverelli, Maurizio Moggio
    Pages 19-40
  4. Laura S. Kremer, Elizabeth M. McCormick, Holger Prokisch, Marni J. Falk
    Pages 41-62
  5. Andrew Schaefer, Albert Lim, Grainne Gorman
    Pages 63-79
  6. Costanza Lamperti, Michelangelo Mancuso
    Pages 101-112
  7. Omar Hikmat, Pirjo Isohanni, Anu Suomalainen, Laurence A. Bindoff
    Pages 113-124
  8. Valerio Carelli, Chiara La Morgia, Thomas Klopstock
    Pages 125-139
  9. Albert Zishen Lim, Robert McFarland
    Pages 151-167
  10. Catarina M. Quinzii, Luis Carlos Lopez
    Pages 169-182
  11. Sumit Parikh, Rita Horvath
    Pages 183-204
  12. Shufang Li, Ramon Martí, Michio Hirano
    Pages 205-222
  13. Yi Shiau Ng, Nichola Z. Lax, Laurence A. Bindoff, Doug M. Turnbull
    Pages 223-239
  14. Anca R. Florian, Ali Yilmaz
    Pages 257-279
  15. Rita Horvath, Patrick F. Chinnery
    Pages 281-287
  16. César Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Fabricio Guimaraes Goncalves, Giulio Zuccoli
    Pages 289-316
  17. S. Koene, C. Jimenez-Moreno, G. S. Gorman
    Pages 317-329
  18. Felix Distelmaier, Thomas Klopstock
    Pages 349-356
  19. Carlo Viscomi, Massimo Zeviani
    Pages 357-370
  20. Lyndsey Craven, Doug M. Turnbull
    Pages 371-382

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.


Mitochondrial medicine Genetics Neurology Multysistemc involvement Biology Therapy of mitochondrial disorders

Editors and affiliations

  • Michelangelo Mancuso
    • 1
  • Thomas Klopstock
    • 2
  1. 1.Department of Clinical and Experimental Medicine, Neurological InstituteUniversity of PisaPisaItaly
  2. 2.Department of Neurology, Friedrich-Baur-InstituteLudwig-Maximilians-University of MunichMunichGermany

Bibliographic information

  • DOI
  • Copyright Information Springer Nature Switzerland AG 2019
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-030-05516-5
  • Online ISBN 978-3-030-05517-2
  • Buy this book on publisher's site