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福山型筋ジストロフィー(FCMD)骨格筋におけるlaminin α2 chainの検討(<特集>小児科学教室大澤真木子教授開講5周年記念)
http://hdl.handle.net/10470/25161
http://hdl.handle.net/10470/25161b451fc92-5343-4d70-a1c5-09a59e963758
名前 / ファイル | ライセンス | アクション |
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KJ00006020578.pdf (862.5 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2010-08-10 | |||||
タイトル | ||||||
タイトル | 福山型筋ジストロフィー(FCMD)骨格筋におけるlaminin α2 chainの検討(<特集>小児科学教室大澤真木子教授開講5周年記念) | |||||
言語 | ||||||
言語 | jpn | |||||
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 | |||||
別タイトル | ||||||
その他のタイトル | Laminin α2 Chain Expression in Fukuyama Type Congenital Muscular Dystrophy (FCMD)(Papers for Cerebrating the Fifth Aniversary of the Directorship of Prof. M. Osawa at the Department of Pediatrics, Tokyo Women's Medical University) | |||||
著者名 |
池谷, 紀代子
× 池谷, 紀代子× 斎藤, 加代子× 小峯, 聡× 伊藤, 万由里× 鈴木, 陽子× 宍倉, 啓子× 平山, 義人× 炭田, 澤子× 大澤, 真木子 |
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著者別名 | ||||||
姓名 | IKEYA, Kiyoko | |||||
著者別名 | ||||||
姓名 | SAITO, Kayoko | |||||
著者別名 | ||||||
姓名 | KOMINE, Satoshi | |||||
著者別名 | ||||||
姓名 | ITO, Mayuri | |||||
著者別名 | ||||||
姓名 | SUZUKI, Haruko | |||||
著者別名 | ||||||
姓名 | SHISHIKURA, Keiko | |||||
著者別名 | ||||||
姓名 | HIRAYAMA, Yoshito | |||||
著者別名 | ||||||
姓名 | SUMIDA, Sawako | |||||
著者別名 | ||||||
姓名 | OSAWA, Makiko | |||||
出版者 | ||||||
出版者 | 東京女子医科大学学会 | |||||
受付日付 | ||||||
日付 | 2010-08-10 | |||||
日付タイプ | Created | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0040-9022 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00161368 | |||||
書誌情報 |
東京女子医科大学雑誌 巻 70, 号 E1, p. E23-E31, 発行日 2000-06-25 |
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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 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | The expression of the laminin α2 chain in skeletal muscle from 16 Fukuyama type congenital muscular dystrophy (FCMD) cases was examined by immunohistochemistry and compared with the clinical features and DNA haplotype of each patients. Only one case showed distinctly reduced expression of the laminin α2 chain, and he also showed motor dysfunction typical of FCMD and relatively mild mental impairment. The brain MRI findings were similar to those in typical FCMD cases and completely different from reported merosin-negative congenital muscular dystrophy (CMD) cases. Haplotype analysis at the 9q31 region revealed he showed heterozygosity with the unique and the ancestral haplotypes. It is possible that mutation of the FCMD gene may have a secondary effect on expression of laminin α2 chain. | |||||
注記 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 小児科学教室大澤真木子教授開講5周年記念特集 | |||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 | ||||||
著者所属 | ||||||
東京女子医科大学医学部小児科学 |