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Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner
Congenital myasthenic syndromes (CMS) are caused by mutations in molecules expressed at the neuromuscular junction. We report clinical, structural, ultrastructural, and electrophysiologic features of 4 CMS patients with 6 heteroallelic variants in AGRN, encoding agrin. One was a 7.9-kb deletion invo...
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| Wydane w: | JCI Insight |
|---|---|
| Główni autorzy: | , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical Investigation
2020
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7205260/ https://ncbi.nlm.nih.gov/pubmed/32271162 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.132023 |
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