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Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type C...
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| Veröffentlicht in: | Eur J Hum Genet |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5255960/ https://ncbi.nlm.nih.gov/pubmed/27966543 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.162 |
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