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

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 a...

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Veröffentlicht in:	Muscle & nerve 2005-07, Vol.32 (1), p.104-107
Hauptverfasser:	Schaefer, Andrew M., Blakely, Emma L., Griffiths, Philip G., Turnbull, Douglass M., Taylor, Robert W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Biopsy chronic progressive external ophthalmoplegia cytochrome c oxidase Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases deletion DNA, Mitochondrial - genetics Electron Transport Electron Transport Complex IV - metabolism Female Genetic Testing histochemistry Histocytochemistry Humans Medical sciences Mitochondrial Diseases - genetics Mitochondrial Diseases - pathology mitochondrial DNA Neurology Ophthalmoplegia, Chronic Progressive External - genetics Ophthalmoplegia, Chronic Progressive External - pathology
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