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A neurological perspective on mitochondrial disease

Lookup NU author(s): Professor Bobby McFarlandORCiD, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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Disruption of the most fundamental cellular energy process, the mitochondrial respiratory chain, results in a diverse and variable group of multisystem disorders known collectively as mitochondrial disease. The frequent involvement of the brain, nerves, and muscles, often in the same patient, places neurologists at the forefront of the interesting and challenging process of diagnosing and caring for these patients. Mitochondrial diseases are among the most frequently inherited neurological disorders, and can be caused by mutations in mitochondrial or nuclear DNA. Substantial progress has been made over the past decade in understanding the genetic basis of these disorders, with important implications for the general neurologist in terms of the diagnosis, investigation, and multidisciplinary management of these patients.

Publication metadata

Author(s): McFarland R, Taylor RW, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Lancet Neurology

Year: 2010

Volume: 9

Issue: 8

Pages: 829-840

Print publication date: 01/08/2010

ISSN (print): 1474-4422

ISSN (electronic): 1474-4465

Publisher: Elsevier


DOI: 10.1016/S1474-4422(10)70116-2