These included well known NMJ genes and genes recently identified to be associated with the NMJ by snRNA-seq studies in adult muscles (such as Prkar1a, Ufsp1, Apobec2)10,11,12 as well as congenital myasthenic syndrome associated NMJ gene Scn4a. 33,34 In addition, novel genes were identified, which were hitherto not known to be expressed in this domain, such as another voltage-gated sodium channel Scn3b, two mTOR signaling inhibitors Ddit4l35 and Prkaa236 and Tead4 which interacts with myogenin during myogenesis17 (Figure S1C; Table S2). The gene discussed is APOBEC2; the disease is Congenital myasthenic syndromes.