Morato-López, L. ., S. M. . Castellar-Leones, E. . Ruiz-Ospina, F. . Ortiz-Corredor, and C. Correa-Arrieta. “Childhood-Onset Congenital Myasthenic Syndrome With CHRNE c.130dup and c.344+5G > a Variants Diagnosed in Adulthood: A Case Report”. Acta Myologica, vol. 45, no. 2-3, Sept. 2026, doi:10.36185/2532-1900-2793.