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Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

Lookup NU author(s): Dr Steve Durham, Professor Patrick Chinnery

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Abstract

The authors measured the absolute amount of mitochondrial DNA (mtDNA) within single muscle fibers from two patients with thymidine kinase 2 (TK2) deficiency and two healthy controls. TK2 deficient fibers containing more than 0.01 mtDNA/μm3 had residual cytochrome c oxidase (COX) activity. This defines the minimum amount of wild-type mtDNA molecules required to maintain COX activity in skeletal muscle and provides an explanation for the mosaic histochemical pattern seen in patients with mtDNA depletion syndrome. Copyright © 2005 by AAN Enterprises, Inc.


Publication metadata

Author(s): Durham SE, Bonilla E, Samuels DC, DiMauro S, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2005

Volume: 65

Issue: 3

Pages: 453-455

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1212/01.wnl.0000171861.30277.88

DOI: 10.1212/01.wnl.0000171861.30277.88

PubMed id: 16087914


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Funding

Funder referenceFunder name
Wellcome Trust
HD32062NICHD NIH HHS

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