Show Summary Details
Page of

Mitochondrial diseases 

Mitochondrial diseases
Mitochondrial diseases

Gráinne S. Gorman

and Patrick F. Chinnery

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 09 May 2021

This chapter critiques ten seminal papers that epitomize the advent and evolution of mitochondrial medicine from the latter half of the last century up until today. These important bodies of work span the pre-molecular and molecular eras, from when diagnostic yield was based on meticulous clinical and biochemical characterization of patients, up until now, with targeted next-generation sequencing revolutionizing our diagnostic approach. The first clinical description of a mitochondrial disorder is reviewed and the subsequent landmark papers that define current clinical and molecular understanding of human diseases caused by inherited disorders of mitochondrial dysfunction are chronicled. The chapter also charts the shift in emphasis from diagnosis to the development of treatments and novel approaches for disease prevention.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.