Mitochondrial Medicine / Edition 1

by Salvatore DiMauro, Michio Hirano, Eric A. Schon

Overview

Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians.
This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.

Product Details

ISBN-13:	9780367446369
Publisher:	CRC Press
Publication date:	11/26/2019
Edition description:	3rd ed.
Pages:	16
Product dimensions:	7.44(w) x 9.69(h) x (d)

About the Author

Salvatore DiMauro MD, Lucy G Moses Professor of Neurology Department of Neurology Columbia University Medical Center, New York. Michio Hirano MD, Associate Professor of Neurology Department of Neurology, Columbia University Medical Center New York. Eric A Schon PhD, Lewis P Rowland Professor of Neurology, Department of Neurology, Professor of Genetics and Development (in Neurology) Department of Genetics and Development Columbia University Medical Center New York.

Table of Contents

List of Boxes ix

List of Contributors xi

Preface xiii

List of Abbreviations xv

Introduction: the birth of mitochondrial medicine Rolf Luft 1

1 The mitochondrial respiratory chain and its disorders Salvatore DiMauro Eric A Schon 7

2 Mitochondrial neurology I: encephalopathies Michio Hirano Petra Kaufmann Darryl De Vivo Kurenai Tanji 27

3 Mitochondrial neurology II: myopathies and peripheral neuropathies Arthur P Hays Maryam Oskoui Kurenai Tanji Petra Kaufmann Eduardo Bonilla 45

4 Mitochondrial cardiology Jeffrey A Towbin 75

5 Mitochondrial ophthalmology Valerio Carelli Piero Barboni Alfredo A Sadun 105

6 Mitochondrial gastroenterology Laurence Bindoff 143

7 Mitochondrial otology Patrick F Chinnery Timothy D Griffiths 161

8 Mitochondrial endocrinology Maria A Yialamas Leif C Groop Vamsi K Mootha 179

9 Mitochondrial nephrology Agnès Rötig Patrick Niaudet 197

10 Mitochondrial hematology and oncology Norbert Gattermann Stefanie Zanssen 209

11 Mitochondrial reproductive medicine David R Thorburn 241

12 Mitochondrial psychiatry Salvatore DiMauro Michio Hirano Petra Kaufmann J John Mann 261

13 Mitochondrial dysfunction and neurodegenerative disorders Kim Tieu Serge Przedborski 279

14 Therapeutic approaches Salvatore DiMauro Eric A Schon 309

Appendix 329

Index 337

What People are Saying About This

From the Publisher

"Attractive to read not only for paediatricians and neurologists familiar with these devastating disorders but definitely also for a broad range of other, if not all, practicing clinicians and clinical scientists. [...] a wannahave for every medical library!" - Jan A.M. Smeitink, Mitochondrion, Feb 2007

'This remarkably well-written book is a pleasure to read and to learn from. Mitochondrial Medicine is highly recommended to medical students, residents, practicing neurologists, ophthalmologists, internists, pediatricians, and pathologists.' - Andrew Engel, Annals of Neurology, Vol. 60: 5

'This excellent book should become the definitive resource on clinical aspects of mitochondrial diseases ... What this book does superbly is bring together all the clinical aspects into one much-needed resource. The book is edited by experts in the field and is both up-to-date and comprehensive ... Mitochondrial Medicine offers the first comprehensive description of the clinical importance of mitochondrial dysfunction in all branches of medicine.' - New England Journal of Medicine

'[The editors] have compiled a brilliant book encapsulating our current knowledge of mitochondrial function and miotochondrisal-based diseases in 14 well-focused chapters ... It presents an exciting and dynamic new publishing venture in a rapidly evolving field of molecular medicine ... Neurologists, psychiatrists, internists, pediatricians, geneticists, and neuroscientists, among others, will benefit greatly from reading this wonderful book. It provides a wealth of clinical and molecular information indispensable to the clinician and physician-scientist alike.' - Archives of Neurology, Vol 63, October 2006

Editorial Reviews

"Attractive to read not only for paediatricians and neurologists familiar with these devastating disorders but definitely also for a broad range of other, if not all, practicing clinicians and clinical scientists. [...] a wannahave for every medical library!" - Jan A.M. Smeitink, Mitochondrion, Feb 2007

'This remarkably well-written book is a pleasure to read and to learn from. Mitochondrial Medicine is highly recommended to medical students, residents, practicing neurologists, ophthalmologists, internists, pediatricians, and pathologists.' - Andrew Engel, Annals of Neurology, Vol. 60: 5

'This excellent book should become the definitive resource on clinical aspects of mitochondrial diseases ... What this book does superbly is bring together all the clinical aspects into one much-needed resource. The book is edited by experts in the field and is both up-to-date and comprehensive ... Mitochondrial Medicine offers the first comprehensive description of the clinical importance of mitochondrial dysfunction in all branches of medicine.' - New England Journal of Medicine

'[The editors] have compiled a brilliant book encapsulating our current knowledge of mitochondrial function and miotochondrisal-based diseases in 14 well-focused chapters ... It presents an exciting and dynamic new publishing venture in a rapidly evolving field of molecular medicine ... Neurologists, psychiatrists, internists, pediatricians, geneticists, and neuroscientists, among others, will benefit greatly from reading this wonderful book. It provides a wealth of clinical and molecular information indispensable to the clinician and physician-scientist alike.' - Archives of Neurology, Vol 63, October 2006

From the Publisher