Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
神经纤维蛋白基因纯合突变影响神经纤维蛋白的胶质亚型,导致严重的神经发育障碍,表现为肌张力低下、无呼吸和反射消失。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddy277
Smigiel, Robert; Sherman, Diane L; Rydzanicz, Malgorzata; Walczak, Anna; Mikolajkow, Dorota; Krolak-Olejnik, Barbara; Kosinska, Joanna; Gasperowicz, Piotr; Biernacka, Anna; Stawinski, Piotr; Marciniak, Malgorzata; Andrzejewski, Witalij; Boczar, Maria; Krajewski, Pawel; Sasiadek, Maria M; Brophy, Peter J; Ploski, Rafal