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Mitochondrial diseases 

Mitochondrial diseases
Chapter:
Mitochondrial diseases
Author(s):

Gráinne S. Gorman

and Patrick F. Chinnery

DOI:
10.1093/med/9780199658602.003.0011
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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.

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