ArticleArquivos de neuro-psiquiatria2022
Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.
Article in Arquivos de neuro-psiquiatria, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Congenital Myasthenic Syndrome-4C in a Consanguineous Romani Family: Genetic Insights and Clinical Implications.Diagnostics (Basel, Switzerland) · 2025Article
- The burden of disease in seronegative myasthenia gravis: a patient-centered perspective.Frontiers in immunology · 2025Observational
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Myasthenia gravis in clinical practice.Arquivos de neuro-psiquiatria · 2022Review
- Hidden diagnoses among patients with double seronegative myasthenia gravis.Frontiers in neurologyArticle
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG).
objectiveThe aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort.
methodsThe genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool.
resultsWe performed genetic analysis in 22 patients with a previous diagnosis of 'double' SNMG. In this study, one CMS patient was confirmed due to the presence of compound heterozygous variants in the CHRNE gene (c.130insG/p.Cys210Phe).
conclusionsThis study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevalence of misdiagnosed CMS to be 4.5% in 'double' SNMG patients of our center. Based on our findings, genetic screening could be helpful in the diagnostic workup of patients with 'double' SNMG in whom differential diagnosis is recommended.
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