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Journal of Neurology
Published in: Journal of Neurology 1/2016

Open Access 01-01-2016 | Neurological Update

Mitochondrial disease: genetics and management

Authors: Yi Shiau Ng, Doug M. Turnbull

Published in: Journal of Neurology | Issue 1/2016

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Abstract

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.
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Metadata
Title
Mitochondrial disease: genetics and management
Authors
Yi Shiau Ng
Doug M. Turnbull
Publication date
01-01-2016
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 1/2016
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-015-7884-3

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