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Mitochondrial disease: genetics and management

Lookup NU author(s): Dr Yi Ng, Professor Doug Turnbull



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. In addition, specific and supportive treatments are discussed.

Publication metadata

Author(s): Ng YS, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2016

Volume: 263

Issue: 1

Pages: 179-191

Print publication date: 01/01/2016

Online publication date: 28/08/2015

Acceptance date: 18/08/2015

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer Medizin


DOI: 10.1007/s00415-015-7884-3


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