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1996:
Gomez C M; Maselli R; Gammack J; Lasalde J; Tamamizu S; Cornblath D R; Lehar M; McNamee M; Kuncl R W
A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.
Annals of neurology 1996;
39(
6):.
Point mutations in the genes encoding the acetylcholine receptor (AChR) subunits have been recognized in some patients with slow-channel congenital myasthenic syndromes (CMS). Clinical, electrophysiological, and pathological differences between these patients may be due to the distinct effects of individual mutations. We report that a spontaneous mutation of the beta subunit that interrupts the leucine ring of the AChR channel gate causes an eightfold increase in channel open time and a severe CMS characterized by severe endplate myopathy and extensive remodeling of the postsynaptic membrane. The pronounced abnormalities in neuromuscular synaptic architecture and function, muscle fiber damage and weakness, resulting from a single point mutation are a dramatic example of a mutation having a dominant gain of function and of hereditary excitotoxicity.
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