Mitochondrial Disease Genes Compendium, From Genes to Clinical Manifestations

• Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions
• Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools
• Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases

1. Foreword
Marni J. Falk, MD
2. State-of-the Field Introduction: The history and evolving paradigm for genomic diagnosis of mitochondrial diseases
David R. Thorburn, PhD
3. Mitochondrial Disease Genes Compendium: Connecting with Knowledge in the Mitochondrial Disease Sequence Data Resource (MSeqDR)
Marni J. Falk, MD, Lishuang Shen, PhD, and Xiaowu Gai, PhD
4. 256 Mitochondrial Disease Genes 

Appendix
1: Mitochondrial Disease Gene Index and Author Acknowledgements
2: Mitochondrial Disease Patient Advocacy Groups List