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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
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
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
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.
Keywords
anti-cholinesterase drug
the CHRNE gene
congenital myasthenic syndrome
late presentation
mimicking seronegative myasthenia gravis
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."
Published Date
2019-06-29
Publication Title
Neurology and Clinical Neuroscience
Volume
volume7
Issue
issue5
Publisher
Wiley
Start Page
288
End Page
290
ISSN
2049-4173
Content Type
Journal Article
language
英語
OAI-PMH Set
岡山大学
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author
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Web of Science KeyUT
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isVersionOf https://doi.org/10.1111/ncn3.12317