Marinesco-Sjogren syndrome with reduced cytochrome c oxidase in muscle.
スポンサーリンク
概要
- 論文の詳細を見る
The present study deals with the sisters of Marinesco-sjogren syndrome without parental consanguinity. Cranial MRI of sisters in a 0.5T superconducting magnet revealed the cerebellar hypoplasia or atrophy, especially in vermis and tonsils with dilatation of IVth ventricle. Microscopic findings of muscle biopsy indicated moderate variation of fibers with phagocytosis, rimmed vacuoles and no ragged red fibers with markedly decreased cytochrome C oxidase activity. 1H-NMR study of urine indicates the secondary decreased turnover rate in urea cycle due to high concentration of 3-hydroxy-n-butyrate.
- 神戸大学の論文
著者
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三好 正浩
北海道大学大学院獣医学研究科診断治療学講座臨床分子生物学教室:北海道立衛生研究所疫学部ウイルス科
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Nakao H
Department Of Infectious Diseases Research National Children's Medical Research Centre
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Sakurai T
Department Of Applied Biological Chemistry The University Of Tokyo:technology And Research Institute
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Miyoshi M
Department Of Environmental Health Graduate School Of Human Culture Nara Women's University
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Kodama S
Department Of Pediatrics Himeji Red Cross Hospital
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Komatsu M
Department Of Applied Chemistry Faculty Of Engineering Kyushu University
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U M
Department of Pediatrics, Himeji Red Cross Hospital
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Miyoshi M
Department Of Anatomy School O Medicine Fukuoka University
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Sakurai T
Hayashibara Biochemical Lab. Inc. Okayama Jpn
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