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Titel:

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

Dokumenttyp:
Article; Journal Article
Autor(en):
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:
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 clinical and molecular characterization of this cohort and aimed to ascertain the cu...     »
Zeitschriftentitel:
J Neurol
Jahr:
2023
Band / Volume:
270
Heft / Issue:
2
Seitenangaben Beitrag:
909-916
Volltext / DOI:
doi:10.1007/s00415-022-11440-0
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36308527
Print-ISSN:
0340-5354
TUM Einrichtung:
Institut für Humangenetik
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