Toggle Main Menu Toggle Search

Open Access padlockePrints

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

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


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


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


DOI: 10.1212/01.wnl.0000171861.30277.88

PubMed id: 16087914


Altmetrics provided by Altmetric


Funder referenceFunder name
Wellcome Trust