Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.

From a single-center neuromuscular disease cohort of 639 adult patients, we identified seven (1.1%) patients with a clinical diagnosis of congenital myasthenic syndromes.

Four (57%) had onset of symptoms in adulthood, of whom two manifested in late adulthood.

Three patients from two families were identified to have COLQ-congenital myasthenic syndromes, one patient with CHRNE-congenital myasthenic syndromes, and one patient with CHRNA1-congenital myasthenic syndromes.

We reclassified two variants, COLQ(NM_005677.4): c.1352G > A p.