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S. N. Bardakov

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Open access Sep 2026

Clinical, genetic, and instrumental features of congenital myasthenic syndrome type 11

Background. Congenital myasthenic syndrome (CMS) type 11, caused by pathogenic biallelic variants in the RAPSN gene, is one of the most common forms of CMS in patients of European origin. The disease is characterized by significant clinical heterogeneity, which, combined with the variability of electrophysiological fin...

E. Melnik, S. N. Bardakov, S. Nikitin et al. · 0 citations

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