ID | 63880 |
フルテキストURL | |
著者 |
Nomura, Emi
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Tadokoro, Koh
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Sasaki, Ryo
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Nakata, Yumi
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Nakano, Yumiko
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Yunoki, Taijun
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Takemoto, Mami
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
Morihara, Ryuta
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
researchmap
Ando, Masahiro
Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University
Takashima, Hiroshi
Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University
Yamashita, Toru
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
researchmap
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抄録 | Charcot-Marie-Tooth disease type 2Z (CMT2Z) shows highly variable clinical features. We report the first Japanese CMT2Z patient with a c.754C>T (p.R252W) substitution of the MORC2 gene, complicating severe retinitis pigmentosa. The MORC2 mutants were involved in a decrease in cell survival through induction of apoptosis. Thus, the MORC2 mutation might be involved in the degeneration of photoreceptors and the development of retinitis pigmentosa.
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キーワード | Charcot-Marie-Tooth disease type 2Z
MORC2
retinitis pigmentosa
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備考 | This is the peer reviewed version of the following article: [Nomura, E, Tadokoro, K, Sasaki, R, et al. Japanese case of Charcot–Marie–Tooth disease type 2Z with severe retinitis pigmentosa. Neurol Clin Neurosci. 2022; 10: 266-268. doi: 10.1111/ncn3.12660], which has been published in final form at [https://doi.org/10.1111/ncn3.12660]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
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発行日 | 2022-08-15
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出版物タイトル |
Neurology and Clinical Neuroscience
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巻 | 10巻
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号 | 5号
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出版者 | Wiley
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開始ページ | 266
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終了ページ | 268
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ISSN | 2049-4173
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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著作権者 | © 2022 Japanese Society of Neurology and John Wiley & Sons Australia, Ltd.
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論文のバージョン | author
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DOI | |
Web of Science KeyUT | |
関連URL | isVersionOf https://doi.org/10.1111/ncn3.12660
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Citation | Nomura, E, Tadokoro, K, Sasaki, R, et al. Japanese case of Charcot–Marie–Tooth disease type 2Z with severe retinitis pigmentosa. Neurol Clin Neurosci. 2022; 10: 266-268. doi: 10.1111/ncn3.12660
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