Chapter 159. Mitochondrial Encephalomyopathies

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief3,4,
  2. Daniel D. Truong MD, FAAN Head5,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head6 and
  4. Roongroj Bhidayasiri MD, FRCP Director7,8
  1. Stacey K. H. Tay MBBS, MRCP (Paeds), MRCPCH Associate Professor1 and
  2. Salvatore DiMauro MD2

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch159

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Tay, S. K. H. and DiMauro, S. (2009) Mitochondrial Encephalomyopathies, in International Neurology: A Clinical Approach (eds R. P. Lisak, D. D. Truong, W. M. Carroll and R. Bhidayasiri), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444317008.ch159

Editor Information

  1. 3

    Wayne State University School of Medicine, Detroit, MI, USA

  2. 4

    Detroit Medical Center, Harper University Hospital, Detroit, MI, USA

  3. 5

    The Parkinson and Movement Disorder Institute, Memorial Neuroscience Institute, Orange Coast Memorial Medical Center, Fountain Valley, CA, USA

  4. 6

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 7

    Chulalongkorn Comprehensive Movement Disorders Center, Chulalongkorn University Hospital, Bangkok, Thailand

  6. 8

    University of California at Los Angeles, School of Medicine, Los Angeles, CA, USA

Author Information

  1. 1

    Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore

  2. 2

    Lucy G. Moses Professor of Neurology, College of Physicians and Surgeons, New York, NY, USA

Publication History

  1. Published Online: 18 MAY 2010
  2. Published Print: 11 SEP 2009

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008



  • mitochondrial encephalomyopathies;
  • mitochondrial diseases, heterogeneous group of disorders characterized by impaired mitochondrial function;
  • mitochondrial genetics and genomic organization;
  • MtDNA replication, transcription and translation;
  • mitochondrial DNA inheritance and transmission;
  • random redistribution of organelles at cell division - changing proportion of mutant mtDNAs;
  • heteroplasmy and threshold effect;
  • genetic and functional classification - disorders of mtDNA;
  • Kearns–Sayre syndrome (KSS) – KSS, multisystemic disorder characterized by obligate triad of progressive external ophthalmoplegia


This chapter contains sections titled:

  • Introduction

  • Mitochondrial genetics

  • Genetic and functional classification

  • Epidemiology

  • Neurological manifestations

  • Diagnosis

  • Therapy

  • Conclusions

  • Further reading