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Genetic spectrum of Chareot-Marie一Tooth disease associated with myelin protein zero gene variants in Japan
http://hdl.handle.net/10232/00031730
http://hdl.handle.net/10232/00031730ceabb721-512a-4928-b012-625894f9da5f
名前 / ファイル | ライセンス | アクション |
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2021-04-15 | |||||
タイトル | ||||||
タイトル | Genetic spectrum of Chareot-Marie一Tooth disease associated with myelin protein zero gene variants in Japan | |||||
別言語のタイトル | ||||||
その他のタイトル | 日本におけるmyelin protein zero遺伝子に関連するシャルコー・マリー・トゥース病の遺伝学的な広がり | |||||
著者 |
谷口, 雄大
× 谷口, 雄大 |
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著者よみ | ||||||
姓名 | タニグチ, タカキ | |||||
別言語の著者 | ||||||
姓名 | TANIGUCHI, Takaki | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | cerebrospinal fluid protein | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Charcot–Marie–Tooth disease | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | cranial nerve involvement | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | creatinekinase | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | myelin P0 protein | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
資源タイプ | doctoral thesis | |||||
アクセス権 | ||||||
アクセス権 | open access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
要約(Abstract) | ||||||
内容記述タイプ | Other | |||||
内容記述 | We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was examined according to the American College of Medical Genetics standards and guidelines. Age of onset, cranial nerve involvement, serum creatine kinase (CK), and cerebrospinal fluid (CSF) protein were also analyzed. We identified 64 CMT patients with reported MPZ variants. The common variants observed in Japan were different from those observed in other countries. We identified 11 novel pathogenic variants from 13 patients. Six novel MPZ variants in eight patients were classified as likely benign or uncertain significance. Cranial nerve involvement was confirmed in 20 patients. Of 30 patients in whom serum CK levels were evaluated, eight had elevated levels. Most of the patients had age of onset >20 years. In another subset of 30 patients, 18 had elevated CSF protein levels; four of these patients had spinal diseases and two had enlarged nerve root or cauda equina. Our results suggest genetic diversity across patients with MPZ variants. | |||||
要約(Abstract) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Kensuke Shiga, Arisa Hayashida, Taku Hatano, Hiroyuki Ishiura, Jun Mitsui, Nobutaka Hattori, Toshiki Mizuno, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan Clinical Genetics. 2021;99(3):359–375. https://doi.org/10.1111/cge.13881 |
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作成日 | ||||||
日付 | 2021-03-10 | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
NDC | ||||||
主題Scheme | NDC | |||||
主題 | 490 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 博士論文全文 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 博士論文要旨 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 最終試験結果の要旨 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 論文審査の要旨 | |||||
公開者・出版者 | ||||||
出版者 | 鹿児島大学 | |||||
公開者・出版者 | ||||||
出版者 | Wiley | |||||
公開者よみ | ||||||
公開者よみ | カゴシマ ダイガク | |||||
公開者別名 | ||||||
公開者別名 | Kagoshima University | |||||
備考 | ||||||
備考 | 【指導教員:髙嶋博】 | |||||
date.appl | ||||||
【学位申請日】2020-12-02 | ||||||
学位名 | ||||||
学位名 | 博士(医学)Doctor of Philosophy in Medical Science | |||||
学位授与機関 | ||||||
学位授与機関識別子Scheme | kakenhi | |||||
学位授与機関識別子 | 17701 | |||||
学位授与機関名 | 鹿児島大学 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2021-03-17 | |||||
学位授与番号 | ||||||
学位授与番号 | 甲総研第597号 |