Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly

We describe a severe postsynaptic congenital myasthenic syndrome with marked endplate acetylcholine receptor (AChR) deficiency caused by 2 heteroallelic mutations in the β subunit gene. One mutation causes skipping of exon 8, truncating the β subunit before its M1 transmembrane domain, and abolishin...

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Vydáno v:J Clin Invest
Hlavní autoři: Quiram, Polly A., Ohno, Kinji, Milone, Margherita, Patterson, Marc C., Pruitt, Ned J., Brengman, Joan M., Sine, Steven M., Engel, Andrew G.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1999
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Article
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC409847/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10562302/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI8179
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