Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity.

Synapse (New York, N.Y.) - 1 Nov 2006

Zayas Roberto, Lasalde-Dominicci Jose, Gomez Christopher M

Abstract excerpt

The slow-channel syndrome (SCS) is a neuromuscular disorder characterized by fatigability, progressive weakness, and degeneration of the neuromuscular junction. The SCS is caused by missense mutations in the four subunits of the skeletal muscle acetylcholine receptor (AChR), which leads to altered channel gating, prolonged neuromuscular postsynaptic currents, and impaired neuromuscular transmission. Although a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Calcium
Share to Cell Membrane Permeability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophysiology

Share to Neuromuscular Diseases

Share to Neuromuscular Junction

Share to Patch-Clamp Techniques

Share to Receptors, Cholinergic

Source

Identifiers

PMID: 16881075
DOI: 10.1002/syn.20317

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity.PMID 16881075Read ↗

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

Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.Semantic proximity Read ↗

Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies.Semantic proximity Read ↗

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.Semantic proximity Read ↗

Slow-Channel Transgenic Mice: A Model of Postsynaptic Organellar Degeneration at the Neuromuscular JunctionSemantic proximity Read ↗

Mechanistic Diversity Underlying Fast Channel Congenital Myasthenic SyndromesSemantic proximity Read ↗

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.Semantic proximity Read ↗

Novel delta subunit mutation in slow‐channel syndrome causes severe weakness by novel mechanismsSemantic proximity Read ↗

Defective fast inactivation recovery of <scp>N</scp>a<sub>v</sub>1.4 in congenital myasthenic syndromeSemantic proximity Read ↗

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.Semantic proximity Read ↗

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.Semantic proximity Read ↗

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductanceSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.