Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia
Slow-channel congenital myasthenic syndromes (SCCMSs) are rare genetic diseases caused by mutations in muscle nicotinic acetylcholine receptor (nAChR) subunits. Most of the known SCCMS-associated mutations localize at the transmembrane region near the ion pore. Only two SCCMS point mutations are at...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-02-01
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Series: | Molecules |
Subjects: | |
Online Access: | https://www.mdpi.com/1420-3049/26/5/1278 |