Toggle Main Menu Toggle Search

Open Access padlockePrints

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


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


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


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

PubMed id: 12767499


Altmetrics provided by Altmetric