Figure 2.

Demographic, clinical features, congenital myasthenic syndrome subtypes and gene frequencies. (A) Geographic distribution by their various Indian states of origin of congenital myasthenic syndrome (CMS) patients reported in this study. (B) Clinical features of CMS patients: percentage of four common symptom groups (limb, ocular, bulbar and respiratory). (C) Pie chart showing frequencies of various CMS subtypes based on location of defect at neuromuscular junction and/or underlying pathomechanism. (D) Frequencies of individual CMS genes identified in the current cohort.