1 | DSMACW, FBXO38 |
A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance. | |
Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. | |
Am J Hum Genet 93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24. 2013 | |