An 80-year-old Mitochondrial Disease Patient with A3243G tRNA^<Leu(UUR)> Gene Presenting Cardiac Dysfunction as the Main Symptom
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概要
- 論文の詳細を見る
MELAS is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, but cardiac involvement also frequently occurs. An 80-year-old female patient had been suffering from insulin-dependent diabetes mellitus and neurosensory hearing loss. At the age of 79 she suffered metabolic acidosis with persistent drowsiness and was subsequently found to have severe cardiac dysfunction. Muscle biopsy disclosed the presence of abnormal mitochondria, and the MELAS gene mutation (A3243G of the tRNALeu(UUR)) was demonstrated. It is noteworthy that this mitochondrial disease patient has survived until a great age, which shows the wide clinical spectrum of MELAS, especially in the age of onset.(Internal Medicine 40: 405-408, 2001)
- 社団法人 日本内科学会の論文
著者
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IKEDA Shu-ichi
Third Department of Medicine, Shinshu University School of Medicine
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Higashikata Takeo
Third Department Of Medicine Shinshu University School Of Medicine
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YAZAKI Masahide
Third Department of Medicine, Shinshu University School of Medicine
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OWA Mafumi
the Third Department of Internal Medicine
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KOYAMA Jun
Third Department of Medicine, Shinshu University School of Medicine
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Owa Mafumi
Third Department of Internal Medicine
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Shimada Hirohide
Third Department of Internal Medicine
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Shimada Hirohide
Third Department Of Medicine Shinshu University School Of Medicine
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Koyama Jun
Third Department Of Medicine Shinshu University School Of Medicine
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Ikeda Shu-ichi
Third Department Of Medicine Shinshu University School Of Medicine
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Owa Mafumi
Third Department Of Medicine Shinshu University School Of Medicine
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Yazaki Masahide
Third Department Of Medicine Shinshu University School Of Medicine
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Ikeda Shu-ihci
Dep. Of Medicine (neurology And Rheumatology) Shinshu Univ. School Of Medicine
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Ikeda Shu-ichi
Third Department Of Medicine (neurology And Rheumatology) Shinshu University School Of Medicine
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