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Gene mutations in adult Japanese patients with dilated cardiomyopathy
http://hdl.handle.net/2297/7198
http://hdl.handle.net/2297/7198230ad4ce-bd73-41da-9296-d28c1ea0593b
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ME-PR-MABUCHI-H-P150.pdf (63.1 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-10-03 | |||||
| タイトル | ||||||
| タイトル | Gene mutations in adult Japanese patients with dilated cardiomyopathy | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Shimizu, Masami
× Shimizu, Masami× Ino, Hidekazu× Yasuda, Toshihiko× Fujino, Noboru× Uchiyama, Katsuharu× Mabuchi, Tomohito× Konno, Tetsuo× Kaneda, Tomoya× Fujita, Takashi× Masuta, Eiichi× Kato, Masahiro× Funada, Akira× Mabuchi, Hiroshi |
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| 提供者所属 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 金沢大学大学院医学系研究科 | |||||
| 書誌情報 |
Circulation Journal 巻 69, 号 2, p. 150-153, 発行日 2005-02-01 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1346-9843 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA11591968 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1253/circj.69.150 | |||||
| 出版者 | ||||||
| 出版者 | 日本循環器学会 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Background: Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear. Methods and Results: A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac ﾎｲ-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, a cardiac actin, ﾎｱ tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes. Conclusions: Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations. | |||||
| 権利 | ||||||
| 権利情報 | 日本循環器学会の許諾を得て登録 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
