Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. In recent years, causative mutations have been identified in atleast 15 genes encoding proteins of the neuromuscular junction. Mutations in MUSK are know...

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Main Authors: Gallenmüller, Constanze, Müller-Felber, Wolfgang, Dusl, Marina, Stucka, Rolf, Guergueltcheva, Velina, Blaschek, Astrid, von der Hagen, Maja, Huebner, Angela, Müller, Juliane S., Lochmüller, Hanns, Abicht, Angela
Formato: Artigo
Idioma:Inglês
Publicado em: Pergamon Press 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4018985/
https://ncbi.nlm.nih.gov/pubmed/24183479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.08.002
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