Article
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.
European journal of neurology - 1 Sept 2026
Muhmann David, Haliloğlu Göknur, Grimalt Maria Antonia, Osredkar Damjan, Castro Ana Vesperinas, Corredera Silvia Cerezo, Abicht Angela, Yıldız Adalet Elçin, Böhm Johann, Schara-Schmidt Ulrike, Gergeli Anja Troha, Estevez-Arias Berta, Vicente Elena Cortes, Nascimento Andres, Marina Adela Della, Benito Daniel Natera-de, Roos Andreas
Abstract excerpt
BACKGROUND: Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ-subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype-phenotype correlations and long-term outcomes are limited. METHODS: We performed a retrospective, multicenter study of nine patients with genetically confirmed CHRND-related CMS from specialized neuromuscular centers....
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