Article
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Journal of neurology - 1 Feb 2023
Krenn Martin, Sener Merve, Rath Jakob, Zulehner Gudrun, Keritam Omar, Wagner Matias, Laccone Franco, Iglseder Stephan, Marte Sonja, Baumgartner Manuela, Eisenkölbl Astrid, Liechtenstein Christian, Rudnik Sabine, Quasthoff Stefan, Grinzinger Susanne, Spenger Johannes, Wortmann Saskia B, Löscher Wolfgang N, Zimprich Fritz, Kellersmann Anna, Rappold Mika, Bernert Günther, Freilinger Michael, Cetin Hakan
Abstract excerpt
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted. METHODS: We used a nationwide approach to collect Austrian patients with genetically confirmed CMS. We provide a...
Topics
- Humans
- Myasthenic Syndromes, Congenital
- Austria
- Acetylcholinesterase
- Treatment Outcome
- Prevalence
- Mutation