Identification of mutations in the MYO9A 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...

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Detalles Bibliográficos
Autores principales: O’Connor, Emily, Töpf, Ana, Müller, Juliane S., Cox, Daniel, Evangelista, Teresinha, Colomer, Jaume, Abicht, Angela, Senderek, Jan, Hasselmann, Oswald, Yaramis, Ahmet, Laval, Steven H., Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958899/
https://www.ncbi.nlm.nih.gov/pubmed/27259756
http://dx.doi.org/10.1093/brain/aww130

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