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

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.

Muscle & nerve - 1 Feb 2013

Finlayson Sarah, Spillane Jennifer, Kullmann Dimitri M, Howard Robin, Webster Richard, Palace Jacqueline, Beeson David

Abstract excerpt

INTRODUCTION: Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation. METHODS: Molecular genetic techniques, electrophysiology, and binding studies in human embryonic kidney (HEK) 293 cells determined mutant function and expression levels. Patient response to treatment was measured by quantitative myasthenic gravis and Medical...

Read the complete abstract on PubMed

Topics

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

Share to Adrenergic beta-2 Receptor Agonists
Share to Albuterol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drug Therapy, Combination

Share to Fluoxetine

Share to Mutation

Share to Myasthenic Syndromes, Congenital

Share to Selective Serotonin Reuptake Inhibitors

Share to Treatment Outcome

Source

Identifiers

PMID: 23281026
DOI: 10.1002/mus.23534

Genes

CHRNE

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

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.PMID 23281026Read ↗

Efficacy of salbutamol monotherapy in slow-channel congenital myasthenic syndrome caused by a novel mutation in CHRND.Semantic proximity Read ↗

Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.Semantic proximity Read ↗

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome.Semantic proximity Read ↗

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

Congenital myasthenic syndromes.Semantic proximity Read ↗

Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.Semantic proximity Read ↗

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

DOK7 congenital myasthenic syndrome responsive to oral salbutamol.Semantic proximity Read ↗

Mechanistic Diversity Underlying Fast Channel Congenital Myasthenic SyndromesSemantic proximity Read ↗

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.Semantic proximity Read ↗

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.Semantic proximity Read ↗

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.Semantic proximity Read ↗

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