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...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:angličtina
Vydáno: 2016
On-line přístup:https://doi.org/10.1093/brain/aww130
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https://doi.org/10.1093/brain/aww130

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