Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
Ohkawara B et al.
Jci Insight, 2020
Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.
Wang A et al.
Frontiers in Neurology, 2020
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Xi J et al.
Orphanet Journal of Rare Diseases, 2017
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
Karakaya M et al.
Journal of Clinical Neuromuscular Disease, 2017
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S et al.
Brain : a Journal of Neurology, 2014
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