✦ LIBER ✦

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

✍ Scribed by Andrew M. Schaefer; Emma L. Blakely; Philip G. Griffiths; Douglass M. Turnbull; Robert W. Taylor

Book ID: 102539337
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 113 KB
Volume: 32
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.20319

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✦ Synopsis

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. Muscle Nerve, 2005

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