Article
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.
Experimental neurology - 1 Sept 2020
Shen Xin-Ming, Di Li, Shen Shelley, Zhao Yuying, Neumeyer Ann M, Selcen Duygu, Sine Steven M, Engel Andrew G
Abstract excerpt
Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the α, δ, and ε but not the β subunit of acetylcholine receptor (AChR). A 16-year-old girl with severe myasthenia had low-amplitude and fast-decaying miniature endplate potentials. Mutation analysis revealed two heteroallelic variants in CHRNB1 encoding the AChR β subunit: a novel c.812C>T (p.P248L) variant in...
Topics
- Adolescent
- DNA Mutational Analysis
- Female
- Humans
- Ion Channel Gating
- Mutation
- Myasthenic Syndromes, Congenital
- Receptors, Nicotinic