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Lookup NU author(s): Professor Patrick Chinnery,
Emeritus Professor Doug Turnbull,
Dr Margaret Johnson
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We studied the accumulation of cytochrome c oxidase (COX)-negative skeletal muscle fibres in six patients with a myopathy due to a mitochondrial DNA (mtDNA) defect. Each patient was biopsied on two or more occasions over a period of 3-15 years. Progressive proximal weakness was associated with an increase in the proportion of COX-negative fibres. These fibres were arranged randomly, indicating that each fibre became COX negative independently of the status of neighbouring fibres. The clinical progression of mtDNA myopathy is therefore a consequence of a biochemical defect that develops independently within individual muscle fibres. It is likely that this is due to the clonal expansion of mutant mtDNA. © 2003 Elsevier Science B.V. All rights reserved.
Author(s): Chinnery PF, Howel D, Turnbull DM, Johnson MA
Publication type: Article
Publication status: Published
Journal: Journal of the Neurological Sciences
ISSN (print): 0022-510X
ISSN (electronic): 1878-5883
PubMed id: 12767499
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