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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

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Abstract

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

URL: http://dx.doi.org/10.1002/mus.20319

DOI: 10.1002/mus.20319

PubMed id: 15795893

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