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
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature.
Batheja A et al.
Ophthalmic Genetics, 2024
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM et al.
Neuromuscular Disorders : Nmd, 2023
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