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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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| Auteurs principaux: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Public Library of Science
2013
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| Sujets: | |
| Accès en ligne: | 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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