COLQ and congenital myasthenic syndrome: However, in the congenital myasthenic syndrome (CMS) group, COLQ was the most frequently affected gene—an observation that contrasts with previous reports, in which COLQ accounts for approximately 10–15% of CMS cases.28–30 Notably, five patients in our cohort harbored the splice-site variant c.393+1G>A, which has been previously reported in Chinese siblings.30–32 While this finding may suggest a unique genetic profile within our Asian population, we acknowledge the limitation posed by the small sample size in the CMS group.