X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene
スポンサーリンク
概要
- 論文の詳細を見る
A 36-year-old Japanese man was hospitalized with coughing and exertional dyspnea (NYHA class I). He was diagnosed as having congestive heart failure, and was treated with diuretics and a β-adrenergic blocking agent. He responded well to the treatment and his symptoms completely disappeared within a few days. Based on his clinical, laboratory, and molecular genetic findings, he was diagnosed as having X-linked dilated cardiomyopathy (XLDCM). He was found to have a large deletion in the dystrophin gene, involving exons 45-55. This is the first report on a Japanese XLDCM patient with a mutation in the central hot-spot region of this gene.(Intenal Medicine 40: 1215-1221, 2001)
- 社団法人 日本内科学会の論文
- 2001-12-01
著者
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Tasaki Naohito
Department Of Cardiology Hiroshima General Hospital
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Tasaki Naohito
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Taniguchi Manabu
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Taniguchi Manabu
Department Of Agricultural Chemistry Kinki University
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SHIMAKURA Tadayuki
Department of Cardiovascular Surgery
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Ichinose Hiroyuki
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Fujimoto Yoshihisa
Department Of Cardiology National Hospital Organization Okayama Medical Center
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Fujimoto Yoshihisa
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Kouno Hiroki
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Haruta Sei-ichi
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Kawakami Tohru
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Urasawa Nobuyuki
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Kurushima Shu-ji
Department Of Internal Medicine Fukuyama Cardiovascular Hospital
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Yoshida Kunihiro
Division Of Clinical And Molecular Genetics Shinshu University Hospital
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Ichinose Hiroyuki
Department Of Cardiac Surgery And Cardiology Cardiovascular Center Shinonoi General Hospital
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