ArticleOrphanet journal of rare diseases2017
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
- [A case of neonatal congenital myasthenic syndrome caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes.Brain communications · 2026Article
- Critical Roles of SEA Domains.Advances in experimental medicine and biology · 2025Review
- Extracellular Matrix of Echinoderms.Marine drugs · 2023Review
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.Acta neuropathologica · 2022Article
- Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome.Internal medicine (Tokyo, Japan) · 2022Article
- Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.International journal of molecular sciences · 2021Review
- Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.Human molecular genetics · 2020Article
- Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.JCI insight · 2020Article
- Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.Frontiers in neurology · 2020Article
- The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.Current opinion in neurology · 2019Review
- Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4.Human molecular genetics · 2019Article
- The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms.Frontiers in neurology · 2019Review
- Analysis of α-Dystroglycan/LG Domain Binding Modes: Investigating Protein Motifs That Regulate the Affinity of Isolated LG Domains.Frontiers in molecular biosciences · 2019Review
- The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.International journal of molecular sciences · 2018Review
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundCongenital myasthenic syndrome caused by mutations in AGRN, a gene encoding a protein with a crucial function at the neuromuscular junction, is a rare disorder. There are few studies in this area. We here present two cases with novel mutations of AGRN of which we further investigated possible pathogenesis.
resultsPatient 1 had general limb weakness with fluctuation and deterioration in the afternoon and in hot weather. Patient 2 had early-onset weakness of lower extremities with suspected fluctuation in the early stages, which then progressed to the upper limbs. Both distal and proximal muscles were involved. Repetitive stimulation on EMG in both patients showed decrement in proximal and distal limbs. Patient 2 showed a marked response to salbutamol while Patient 1 did not. By targeted exome sequencing, two novel homozygous missense variants, p.L1176P and p.R1698C, in the SEA and LG2 domain of agrin were identified respectively. Further functional analysis revealed instability of the protein and impaired clustering of the acetylcholine receptor (AChR) by both mutations.
conclusionsThe mutations identified in AGRN in our study may cause congenital myasthenic syndrome by damaging protein stability and interfering with AChR clustering. These results broaden the understandings on the phenotype, genotype and pathogenesis of this rare disorder.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.