1 | ALG14, ALG2, CMSAL14, CMSAL2 |
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. | |
Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium, Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. | |
Brain 136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. 2013 | |