Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing
Our findings provide evidence that a considerable proportion of patients diagnosed with SNMG have an underlying hereditary etiology. Notably, a (subjective) response to immunotherapies does not exclude a molecular CMS diagnosis. In conclusion, offering genetic testing to seronegative patients with myasthenic syndromes may have profound therapeutic implications.
Authors
- Wolfgang N. Löscher (ORCID: https://orcid.org/0000-0002-7593-3222)
- Dominik Lenz (ORCID: https://orcid.org/0000-0001-6932-401X)
- Martin Blüthner
- Vera E. A. Kleinveld (ORCID: https://orcid.org/0000-0002-6531-0398)
- Kevin C. O’Connor (ORCID: https://orcid.org/0000-0002-7056-419X)
- Omar Keritam (ORCID: https://orcid.org/0000-0002-6819-5006)
- Inga Koneczny (ORCID: https://orcid.org/0000-0002-0567-021X)
- Juliane Winkelmann (ORCID: https://orcid.org/0000-0002-3074-599X)
- Ebe Schiavo (ORCID: https://orcid.org/0000-0001-5892-9048)
- Christian Kiss (ORCID: https://orcid.org/0000-0001-8388-5147)
- John Canning (ORCID: https://orcid.org/0000-0001-8281-7783)
- Patrick Joseph Waters (ORCID: https://orcid.org/0000-0003-4142-2667)
- Rosa Weng (ORCID: https://orcid.org/0000-0002-0143-4260)
- Elisabeth Graf (ORCID: https://orcid.org/0000-0002-1119-2285)
- Valentina Damato (ORCID: https://orcid.org/0000-0003-1740-4522)
- Hakan Çetin (ORCID: https://orcid.org/0000-0001-9009-7261)
- Matias Wagner (ORCID: https://orcid.org/0000-0002-4454-8823)
- Stefan Quasthoff (ORCID: https://orcid.org/0000-0003-4183-8320)
- Fritz Zimprich (ORCID: https://orcid.org/0000-0002-6998-5480)
- Gianvito Masi (ORCID: https://orcid.org/0000-0003-4754-2141)
- Jakob Rath (ORCID: https://orcid.org/0000-0001-6581-4572)
- Martin Krenn (ORCID: https://orcid.org/0000-0003-3026-3082)
- Gudrun Zulehner (ORCID: https://orcid.org/0000-0003-4151-684X)
- Valeriu Gold
- Martin Pavlov
- Helena Schuller
- Isabel Pugna
Institutions
- Innsbruck Medical University (AT)
- Universität Innsbruck (AT)
- Medical University of Graz (AT)
- TUM Klinikum (DE)
- Helmholtz Zentrum München (DE)
- Yale University (US)
- University of Oxford (GB)
- Comprehensive Cancer Center Vienna (AT)
- Center for HIV and Hepatogastroenterology (DE)
- University of Florence (IT)
- Medical University of Vienna (AT)
Publication Details
- Journal
- Neurology
- Published
- 2025-09-26
- DOI
- https://doi.org/10.1212/wnl.0000000000214177
- Citations
- 2
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 2.78