Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2

• 資料種別: 記事
• タイトル: Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2
• 著者標目: Takahiro Nakayama; Harumasa Nakamura; Yasushi Oya; Takashi Kimura; Ichiro Imahuku; Kinji Ohno; https://orcid.org/0000-0002-1529-2750; Ichizo Nishino; https://orcid.org/0000-0001-9452-112X; Koji Abe; Tohru Matsuura
• 出版年月日等: 2014-01-16
• 出版年（W3CDTF）: 2014-01-16
• タイトル（掲載誌）: Journal of Human Genetics
• 巻号年月日等（掲載誌）: 59 3
• 掲載巻: 59
• 掲載号: 3
• 掲載ページ: 129-133
• 掲載年月日（W3CDTF）: 2014-01-16
• ISSN（掲載誌）: 14345161
• 出版事項（掲載誌）: Springer Science and Business Media LLC
• 件名標目: Adult; Male; Siblings; Middle Aged; Polymerase Chain Reaction; Pedigree; Blotting, Southern; Asian People; Humans; Myotonic Dystrophy; Original Article; Family; Female; Aged
• 対象利用者: 一般
• 標準番号（その他）: PMID : 24430576
• DOI: 10.1038/jhg.2013.133
• 作成日（W3CDTF）: 2014-01-16
• オンライン閲覧公開範囲: インターネット公開
• 著作権情報: http://www.springer.com/tdm
• 関連情報（URI）: http://www.nature.com/articles/jhg2013133.pdf; http://www.nature.com/articles/jhg2013133
• 参照: Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient; https://cir.nii.ac.jp/crid/1390860764354665344
• 参照: Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese; https://cir.nii.ac.jp/crid/1360011143775369088; Upgrading molecular diagnostics of myotonic dystrophies: Multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs; https://cir.nii.ac.jp/crid/1360011144571391360; Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2; https://cir.nii.ac.jp/crid/1360292619142447616; Strong association between myotonic dystrophy type 2 and autoimmune diseases; https://cir.nii.ac.jp/crid/1360292620413388928; Myotonic dystrophy type 2 is rare in the Japanese population; https://cir.nii.ac.jp/crid/1360848658340051968; Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract; https://cir.nii.ac.jp/crid/1361137044570620416; Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect; https://cir.nii.ac.jp/crid/1361699994906563200; Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families; https://cir.nii.ac.jp/crid/1361981468525069184; Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians; https://cir.nii.ac.jp/crid/1361981471210818432; Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of <i>ZNF9</i>; https://cir.nii.ac.jp/crid/1361981471364381312; Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype; https://cir.nii.ac.jp/crid/1362262944535550976; Clinical phenotype of Brazilian families with spinocerebellar ataxia 10; https://cir.nii.ac.jp/crid/1363107369778201856; Myotonic dystrophy type 2; https://cir.nii.ac.jp/crid/1363388845693153408; Myotonic dystrophy type 2 and related myotonic disorders; https://cir.nii.ac.jp/crid/1363670320876484608
• 連携機関・データベース: 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• 提供元機関・データベース: Crossref; https://www.crossref.org; 科学研究費助成事業データベース; https://kaken.nii.ac.jp/ja

• 要約等: Myotonic dystrophy type 2 (DM2) is more common than DM1 in Europe and is considered a rare cause of myotonic dystrophies in Asia. Its clinical course ...