| 1 | AARS1, CMT2N |
| A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). | |
| McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. | |
| Hum Mutat 33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. 2012 | |
| 2 | AARS1, CMT2N, DICMT3 |
| A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal charcot-marie-tooth disease. | |
| Latour P, Thauvin-Robinet C, Baudelet-Méry C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayençon M, Sarcey A, Broussolle E, Camu W, David A, Rousson R. | |
| Am J Hum Genet 86(1):77-82. Epub 2009 Dec 31.PMID: 20045102 2010 | |