A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Zhang S, Ohkawara B, Ito M, Huang Z, Zhao F, Nakata T, Takeuchi T, Sakurai H, Komaki H, Kamon M, et al. Hum Mol Genet. 2023 Apr 20; 32(9):1511-1523.