IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference24 articles.
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2. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome;Engel;Hum Mol Genet,1996
3. Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome;Gomez;J Neurosci,2002
4. Sleuthing molecular targets for neurological diseases at the neuromuscular junction;Engel;Nat Rev Neurosci,2003
5. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit;Ohno;Proc Natl Acad Sci USA,1995
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2. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13
3. Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports;Current Neuropharmacology;2021-04-29
4. Congenital myasthenic syndrome in China: genetic and myopathological characterization;Annals of Clinical and Translational Neurology;2021-03-23
5. Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia;Neurology;2020-09-09
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