Cite

    Katata, Y., Uneoka, S., Saijyo, N., Aihara, Y., Miyazoe, T., Koyamaishi, S., Oikawa, Y., Ito, Y., Abe, Y., Numata‐Uematsu, Y., Takayama, J., Kikuchi, A., Tamiya, G., Uematsu, M., & Kure, S. (2022). the longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant. American journal of medical genetics, 188(4), 1293–1298. http://access.bl.uk/ark:/81055/vdc_100152642786.0x00001e