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Congenital myasthenic syndrome: a tale of two siblings.

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Title: Congenital myasthenic syndrome: a tale of two siblings.
Authors: Banerjee, Ahitagni (AUTHOR), Datta Kanjilal, Sumana (AUTHOR), Biswas, Tamoghna (AUTHOR), Ghoshal, Arnab (AUTHOR), Sarkar, Sumit (AUTHOR)
Source: International Journal of Neuroscience. 2024, Vol. 134 Issue 3, p253-255. 3p.
Subjects: Congenital myasthenic syndromes, Neuromuscular diseases, Myoneural junction, Siblings, Oral drug administration
Abstract: Congenital myasthenic syndromes are a group of rare neuromuscular junction disorders. Traditional anticholinesterase inhibitors may not help in congenital myasthenic syndromes and in some variants may actually cause deterioration of symptoms. In this report, we describe a rare case of congenital myasthenic syndrome with heterozygous mutations in CHRNE gene (c.128A > T; heterozygous; exon 11) and COLQ gene (c.1201T > A; heterozygous; exon 16), which did not show improvement on neostigmine test but responded to treatment with oral salbutamol. [ABSTRACT FROM AUTHOR]
Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Congenital myasthenic syndrome: a tale of two siblings.
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  Data: <searchLink fieldCode="AR" term="%22Banerjee%2C+Ahitagni%22">Banerjee, Ahitagni</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Datta+Kanjilal%2C+Sumana%22">Datta Kanjilal, Sumana</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Biswas%2C+Tamoghna%22">Biswas, Tamoghna</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ghoshal%2C+Arnab%22">Ghoshal, Arnab</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sarkar%2C+Sumit%22">Sarkar, Sumit</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Neuroscience%22">International Journal of Neuroscience</searchLink>. 2024, Vol. 134 Issue 3, p253-255. 3p.
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  Data: <searchLink fieldCode="DE" term="%22Congenital+myasthenic+syndromes%22">Congenital myasthenic syndromes</searchLink><br /><searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Myoneural+junction%22">Myoneural junction</searchLink><br /><searchLink fieldCode="DE" term="%22Siblings%22">Siblings</searchLink><br /><searchLink fieldCode="DE" term="%22Oral+drug+administration%22">Oral drug administration</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Congenital myasthenic syndromes are a group of rare neuromuscular junction disorders. Traditional anticholinesterase inhibitors may not help in congenital myasthenic syndromes and in some variants may actually cause deterioration of symptoms. In this report, we describe a rare case of congenital myasthenic syndrome with heterozygous mutations in CHRNE gene (c.128A > T; heterozygous; exon 11) and COLQ gene (c.1201T > A; heterozygous; exon 16), which did not show improvement on neostigmine test but responded to treatment with oral salbutamol. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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      – Type: doi
        Value: 10.1080/00207454.2022.2100774
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      – Code: eng
        Text: English
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        PageCount: 3
        StartPage: 253
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        Type: general
      – SubjectFull: Neuromuscular diseases
        Type: general
      – SubjectFull: Myoneural junction
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      – SubjectFull: Siblings
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      – SubjectFull: Oral drug administration
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              Text: 2024
              Type: published
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