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The diagnosis of mitochondrial muscle disease

Lookup NU author(s): Professor Robert Taylor, Dr Andrew Schaefer, Dr Martin Barron, Professor Bobby McFarlandORCiD, Emeritus Professor Doug Turnbull


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Mitochondrial respiratory chain abnormalities are an important cause of neuromuscular disease and may be due to defects of either the mitochondrial or nuclear genome. On account of the clinical and genetic heterogeneity exhibited by the mitochondrial myopathies, their investigation and diagnosis remains a challenge, requiring a combination of techniques including muscle histochemistry, biochemical assessment of respiratory chain function and molecular genetic studies. Here, we describe a step-by-step approach to the clinical and laboratory diagnosis of mitochondrial muscle disease, highlighting the many potential problems that can hinder reaching the correct diagnosis. © 2004 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2004

Volume: 14

Issue: 4

Pages: 237-245

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364


DOI: 10.1016/j.nmd.2003.12.004

PubMed id: 15019701