1 | GIPC1, LRP12, NOTCH2NLC, OPDM1, OPDM2, OPDM3, OPDM4, RILPL1 |
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4 | |
Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J. | |
Am J Hum Genet. Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. 2022 | |
2 | GIPC1, LRP12, NOTCHNLC, OPDM1, OPDM2, OPDM3, OPDM4, RILPL1 |
Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China | |
An R, Chen H, Gu W, Xu Y, He C. | |
Neurol Sci. Mar 22. doi: 10.1007/s10072-022-06005-y. Epub ahead of print. 2022 | |