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Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy

Lookup NU author(s): Dr Martin Barron, Professor Patrick Chinnery, Denise Howel, Dr Andrew Schaefer, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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Mitochondrial DNA (mtDNA) disease is a common cause of myopathy and the presence of histochemically demonstrated cytochrome c oxidase (COX) deficiency is an extremely useful diagnostic feature. However, there is currently no quantitative information regarding the variability of COX deficiency within or between muscles. This study addresses this issue by studying a number of skeletal muscle samples obtained at post-mortem from three patients with mitochondrial disease due to established mitochondrial DNA defects. COX deficient muscle fibres were enumerated in sections of these muscles and analysed according to patient, individual muscle, position within a particular muscle and sample size. Descriptive statistics were generated followed by an analysis of variance (ANOVA) to assess the effect of these parameters on the mean percentage of COX deficient fibres. We observed statistically significant variation in the percentage of COX deficient fibres within individual muscles from each patient for samples sizes of between 100 and 400 fibres. Our results have implications for the way in which biopsies of skeletal muscle are used for the assessment of disease severity, progression and response to treatment. © 2005 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Barron MJ, Chinnery PF, Howel D, Blakely EL, Schaefer AM, Taylor RW, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2005

Volume: 15

Issue: 11

Pages: 768-774

Print publication date: 01/11/2005

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier


DOI: 10.1016/j.nmd.2005.06.018

PubMed id: 16198107


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Funder referenceFunder name
074454Wellcome Trust