A Japanese Patient With Cardiomyopathy Caused by a Novel Mutation R285X in the AGL Gene
スポンサーリンク
概要
- 論文の詳細を見る
Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. The pattern of LVH is distinctive in hypertrophic or metabolic cardiomyopathy and differs from that seen in LVH caused by hypertension or aortic stenosis. A 42-year-old Japanese man had LVH similar to that with hypertrophic cardiomyopathy. The patient was diagnosed with glycogen storage disease type IIIa (GSD-IIIa). Echocardiography showed that he had severe LVH, and concomitant hepatomegaly and hypoglycemia, which led to measurement of glycogen debranching enzyme (GDE) activity ; it was undetectable. Sequence analysis of the AGL gene encoding GDE showed a novel nonsense mutation : a C-to-T transition at codon 285 in exon 8, resulting in substitution of the arginine codon by the stop codon (R285X). The patient was homozygous for the mutation. Cardiomyopathy in this patient was caused by a nonsense mutation in the AGL gene. Five other Japanese GSD-IIIa patients over 30 years of age have all presented with cardiomyopathy, as well as hepatomegaly and hypoglycemia. Patients with LVH associated with hepatomegaly and hypoglycemia should undergo biochemical and genetic analyses for GSD-IIIa.
- 社団法人日本循環器学会の論文
- 2007-09-20
著者
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HIGAKI Jitsuo
Ehime University
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Oshita Akira
愛媛県立今治病院 循環器科
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OGIMOTO Akiyoshi
Department of Integrated Medicine and Informatics, Ehime University Graduate School of Medicine
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OKAYAMA Hideki
Department of Integrated Medicine and Informatics, Ehime University Graduate School of Medicine
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INOUE Katsuji
Department of Integrated Medicine and Informatics, Ehime University Graduate School of Medicine
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Ohtsuka Tomoaki
Department Of Cardiology Ehime Prefectural Imabari Hospital
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Ohtsuka Tomoaki
愛媛大学医学部 第二内科
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Obara Taku
東北大学 臨床薬学
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Oshita Akira
熊本大学 大学院循環器病態学
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Inoue Katsuji
Department Of Integrated Medicine And Informatics Ehime University Graduate School Of Medicine
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Inoue Katsuji
Department Of Cardiology Saiseikai Saijo Hospital
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Higaki Jitsuro
The Department Of Geriatric Medicine Osaka University Medical School
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Okayama Hideki
Division Of Cardiology Department Of Integrated Medicine And Informatics Ehime University Graduate S
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Okayama Hideki
Division Of Cardiology Ehime University Graduate School Of Medicine
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Okayama Hideki
Department Of Cardiology Ehime University School Of Medicine
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Tahara Hideki
Department Of Endocrinology Metabolism And Molecular Medicine Osaka City University Graduate School
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Murase T
Okinaka Memorial Institute For Medical Research
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ENDO Yoriko
Okinaka Memorial Institute for Medical Research
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EBARA Tetsu
Okinaka Memorial Institute for Medical Research
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MURASE Toshio
Okinaka Memorial Institute for Medical Research
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OKUBO Minoru
Okinaka Memorial Institute for Medical Research
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Ogimoto Akiyoshi
Division Of Cardiology Department Of Integrated Medicine And Informatics Ehime University Graduate S
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Ogimoto Akiyoshi
Department Of Cardiology Ehime National Hispital
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Shin Yoon
Molecular Genetics And Metabolism Laboratory
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Murase T
Department Of Endocrinology And Metabolism Okinaka Memorial Institute For Medical Research And Toran
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Inoue Katsuji
Division Of Cardiology Department Of Integrated Medicine And Informatics Ehime University Graduate S
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Okayama Hideki
Department Of Cardiology Kitaishikai Hospital
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Higaki Jistuo
Department of Integrated Medicine and Informatics, Ehime University Graduate School of Medicine
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Inoue Katsuji
Division Of Cardiology Department Of Integrated Medicine And Informatics Ehime University Graduate S
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Tahara Hideki
Department Of Metabolism Endocrinology And Molecular Medicine Osaka City University Graduate School
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Inoue Katsuji
Division Of Cardiology Department Of Integrated Medicine And Informatics Ehime University Graduate S
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Okayama Hideki
Department Of Cardiology Ehime Prefectural Central Hospital
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Inoue Katsuji
Division Of Cardiology Department Of Integrated Medicine And Informatics Ehime University Graduate S
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