Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome

Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome

Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depe...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Emily O’Connor, Ana Töpf, Juliane S. Müller, Dan Cox, Teresinha Evangelista, J. Colomer, Angela Abicht, Jan Senderek, Oswald Hasselmann, Ahmet Yaramış, Steven H. Laval, Hanns Lochmüller
Format: Artigo
Sprache:Englisch
Veröffentlicht: 2016
Online-Zugang:https://doi.org/10.1093/brain/aww130
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Online

https://doi.org/10.1093/brain/aww130

Ähnliche Einträge