Associated Papers
Slow-Channel Congenital Myasthenic Syndrome Due to the Novel Variant c.1396G_A in CHRNA1 That Responds Favorably to 3,4-Diaminopyridine: A Case Report.
Finsterer J
Cureus, 2024
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
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
29895855 (PubMed )
Supplement: 41436_2018_33_MOESM4_ESM.xlsx › Table_S1
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Abath Neto O et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2017
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