The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
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.
Katata Y, et al. Among authors: ito y.
Am J Med Genet A. 2022 Apr;188(4):1293-1298. doi: 10.1002/ajmg.a.62629. Epub 2021 Dec 31.
Am J Med Genet A. 2022.
PMID: 34971077