1 | ALS5, CMT2X, SPG11 |
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. | |
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. | |
Brain 139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. 2016 | |