Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
Acta Neuropathol Commun. 2025 Feb 13;13(1):29. doi: 10.1186/s40478-025-01946-9. ABSTRACT Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and …