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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Vydáno v:JCI Insight
Hlavní autoři: Ohkawara, Bisei, Shen, XinMing, Selcen, Duygu, Nazim, Mohammad, Bril, Vera, Tarnopolsky, Mark A., Brady, Lauren, Fukami, Sae, Amato, Anthony A., Yis, Uluc, Ohno, Kinji, Engel, Andrew G.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2020
Témata:
Research Article
On-line přístup: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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