A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). We report here an Iranian patient in who...

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Hauptverfasser: Ben Ammar, Asma, Soltanzadeh, Payam, Bauché, Stéphanie, Richard, Pascale, Goillot, Evelyne, Herbst, Ruth, Gaudon, Karen, Huzé, Caroline, Schaeffer, Laurent, Yamanashi, Yuji, Higuchi, Osamu, Taly, Antoine, Koenig, Jeanine, Leroy, Jean-Paul, Hentati, Fayçal, Najmabadi, Hossein, Kahrizi, Kimia, Ilkhani, Manouchehr, Fardeau, Michel, Eymard, Bruno, Hantaï, Daniel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2013
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3541344/
https://ncbi.nlm.nih.gov/pubmed/23326516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0053826
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