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Lookup NU author(s): Dr Andrew Schaefer,
Emeritus Professor Doug Turnbull,
Professor Robert Taylor
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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.
Author(s): Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW
Publication type: Article
Publication status: Published
Journal: Muscle and Nerve
Print publication date: 01/07/2005
ISSN (print): 0148-639X
ISSN (electronic): 1097-4598
PubMed id: 15795893
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