Toggle Main Menu Toggle Search

Open Access padlockePrints

Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis

Lookup NU author(s): Dr Andrew Schaefer, Philip Griffiths, Emeritus Professor Doug Turnbull, Professor Robert Taylor


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


We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large-scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings. © 2005 Wiley Periodicals, Inc.

Publication metadata

Author(s): Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW

Publication type: Article

Publication status: Published

Journal: Muscle and Nerve

Year: 2005

Volume: 32

Issue: 1

Pages: 104-107

Print publication date: 01/07/2005

ISSN (print): 0148-639X

ISSN (electronic): 1097-4598

Publisher: Wiley-Blackwell


DOI: 10.1002/mus.20319

PubMed id: 15795893


Altmetrics provided by Altmetric


Funder referenceFunder name
074454Wellcome Trust