ID | 57779 |
フルテキストURL | |
著者 |
Nakano, Yumiko
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
ORCID
Tsunoda, Keiichiro
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
ORCID
Yamashita, Toru
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
ORCID
Kaken ID
researchmap
Mitsui, Jun
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Sato, Kota
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
ORCID
Takemoto, Mami
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
ORCID
Kaken ID
Hishikawa, Nozomi
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Kaken ID
Ohta, Yasuyuki
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Kaken ID
researchmap
Toda, Tatsushi
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Tsuji, Shoji
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Abe, Koji
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Kaken ID
publons
researchmap
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抄録 | We found a late presented congenital myasthenic syndrome (CMS) patient with novel CHRNE gene mutations. Although our patient has shown blepharoptosis since youth, fatigable muscle weakness began at age 71. Genetic analysis revealed novel compound heterozygous CHRNE mutations (c.1032+2T>G, c.1306_1307 delGA). His myasthenic symptoms were well managed by oral anti‐cholinesterase drug until he died at 82‐year‐old. The present case showed mild myasthenic symptoms with very late presentation and slow progression. Late presented CMS is often underdiagnosed; therefore, genetic testing is important to distinguish it from other myasthenic disease.
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キーワード | anti-cholinesterase drug
the CHRNE gene
congenital myasthenic syndrome
late presentation
mimicking seronegative myasthenia gravis
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備考 | "This is the peer reviewed version of the following article: Yumiko Nakano et. al. Late presented congenital myasthenic syndrome with novel compound heterozygous CHRNE mutations mimicking seronegative myasthenia gravis. Neurology and Clinical Neuroscience (2019) 7(5) 288-290, which has been published in final form at https://doi.org/10.1111/ncn3.12317. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions."
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発行日 | 2019-06-29
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出版物タイトル |
Neurology and Clinical Neuroscience
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巻 | 7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 | 288
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終了ページ | 290
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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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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/ncn3.12317
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