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Article

Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation.

Molecular and cellular neurosciences - 1 Jan 2000

Navedo Manuel F, Lasalde-Dominicci José A, Báez-Pagán Carlos A, Díaz-Pérez Luzed, Rojas Legier V, Maselli Ricardo A, Staub Julie, Schott Kelly, Zayas Roberto, Gomez Christopher M

Abstract excerpt

We traced the cause of a slow-channel syndrome (SCS) in a patient with progressive muscle weakness, repetitive compound muscle action potential and prolonged low amplitude synaptic currents to a V --> F substitution in the M1 domain of the beta subunit (betaV229F) of the muscle acetylcholine receptor (AChR). In vitro expression studies in Xenopus oocytes indicated that the novel mutation betaV229F expressed...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cell Membrane Permeability

Share to Excitatory Postsynaptic Potentials

Share to Myasthenic Syndromes, Congenital

Share to Neuromuscular Junction

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Source

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Identifiers

PMID: 16624571
DOI: 10.1016/j.mcn.2006.02.004
PMCID: PMC4636114

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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