ID | 57779 |
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Author |
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
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Yamashita, Toru
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
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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
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Hishikawa, Nozomi
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
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Ohta, Yasuyuki
Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
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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
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Abstract | 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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Keywords | anti-cholinesterase drug
the CHRNE gene
congenital myasthenic syndrome
late presentation
mimicking seronegative myasthenia gravis
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Note | "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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Published Date | 2019-06-29
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Publication Title |
Neurology and Clinical Neuroscience
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Volume | volume7
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Issue | issue5
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Publisher | Wiley
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Start Page | 288
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End Page | 290
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ISSN | 2049-4173
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Content Type |
Journal Article
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language |
English
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OAI-PMH Set |
岡山大学
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File Version | author
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DOI | |
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Related Url | isVersionOf https://doi.org/10.1111/ncn3.12317
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