Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, Smirin-Yosef P, Van Hout CV, Fellig Y, Ruhrman-Shahar N, Staples J, Magal N, Shuldiner AR, Mitchell BD, Nevo Y, Pollin TI, Gonzaga-Jauregui C, Basel-Salmon L.
Salzer-Sheelo L, et al. Among authors: shuldiner ar.
Eur J Neurol. 2022 Apr;29(4):1174-1180. doi: 10.1111/ene.15218. Epub 2022 Jan 7.
Eur J Neurol. 2022.
PMID: 34935254