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Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres

Lookup NU author(s): Professor Patrick Chinnery, Denise Howel, Emeritus Professor Doug Turnbull, Dr Margaret Johnson

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Abstract

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.

Publication metadata

Author(s): Chinnery PF, Howel D, Turnbull DM, Johnson MA

Publication type: Article

Publication status: Published

Journal: Journal of the Neurological Sciences

Year: 2003

Volume: 211

Issue: 1-2

Pages: 63-66

ISSN (print): 0022-510X

ISSN (electronic): 1878-5883

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/S0022-510X(03)00039-X

DOI: 10.1016/S0022-510X(03)00039-X

PubMed id: 12767499

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