| 1 | CMT2S, IGHMBP2 |
| Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2. | |
| Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. | |
| Am J Hum Genet 95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. 2014 | |