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Rapid genetic diagnosis and pyruvate therapy for mitochondrial diseases

✍ Scribed by Masashi Tanaka; Kumpei Tanisawa; Eri Mikami; Noriyuki Fuku; Yutaka Nishigaki; Yasutoshi Koga; Akira Ohkake; Yasushi Okazaki; Kei Murayama

Book ID: 119327047
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 80 KB
Volume: 12
Category: Article
ISSN: 1567-7249
DOI: 10.1016/j.mito.2012.07.078

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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 mo