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

Journal of the Neurological Sciences
Patrick F ChinneryM A Johnson

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.

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Citations

Oct 12, 2012·Molecular Genetics and Genomics : MGG·S Stuart, L R Griffiths
Oct 2, 2012·American Journal of Respiratory and Critical Care Medicine·Martin PicardBasil J Petrof
Jun 9, 2009·BMC Clinical Pathology·Frank RoelsRudy Van Coster
Aug 22, 2014·Journal of Neurology, Neurosurgery, and Psychiatry·Frank HanischStephan Zierz
Dec 4, 2004·Biochimica Et Biophysica Acta·Tanja Taivassalo, Ronald G Haller
Mar 25, 2006·Cephalalgia : an International Journal of Headache·M SparacoM E Bigal
Apr 29, 2005·Brain : a Journal of Neurology·Mikko KärppäKari Majamaa
Dec 7, 2005·Medicine and Science in Sports and Exercise·Tanja Taivassalo, Ronald G Haller
Jul 6, 2017·Journal of Clinical Medicine·Rahul Phadke
Oct 1, 2021·Mitochondrion·Narayanappa GayathriShivani Sharma

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