Associated Papers
Slow-Channel Congenital Myasthenic Syndrome Due to CHRND Mutation in South Korea.
Min JH et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.
Durmus H et al.
Acta Neurologica Belgica, 2021
Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.
Shen XM et al.
Annals of Clinical and Translational Neurology, 2019
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