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Epidemiology and treatment of mitochondrial disorders

Lookup NU author(s): Professor Patrick Chinnery, Emeritus Professor Doug Turnbull


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The last ten years have seen a huge increase in the number of different genetic defects found in patients with mitochondrial disorders, but the true impact of mitochondrial disease is only just becoming apparent. Mitochondrial diseases are far more common than was anticipated. Although there have also been major advances in our understanding of mitochondrial pathology, the clinical management of patients with mitochondrial disease is largely supportive. In this article, we focus on primary disorders of the mitochondrial respiratory chain and mtDNA defects. We review the available epidemiological data, outline current strategies for the management of mitochondrial disease, and highlight new therapeutic approaches that may prove useful in the future, (C) 2001 Wiley-Liss, Inc.

Publication metadata

Author(s): Chinnery PF, Turnbull DM

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics

Year: 2001

Volume: 106

Issue: 1

Pages: 94-101

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/ajmg.1426


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