A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference23 articles.
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3. Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction;Gomez;J Neurosci,1997
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1. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13
2. Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases;Journal of Neuromuscular Diseases;2022-07-01
3. Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports;Current Neuropharmacology;2021-04-29
4. Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine;Acta Neurologica Belgica;2020-10-08
5. Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia;Neurology;2020-09-09
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