| 1 | ATP1A1, DICMT2 |
| Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. | |
| Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. | |
| Am J Hum Genet 102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023. 2018 | |