| 1 | PLEKHG5, RICMTC |
| PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. | |
| Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R. | |
| Hum Mol Genet 22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17. 2013 | |
| 2 | PLEKHG5, RICMTC |
| Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. | |
| Kim HJ, Hong YB, Park JM, Choi YR, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi BO. | |
| Orphanet J Rare Dis 8:104. doi: 10.1186/1750-1172-8-104. Erratum in: Orphanet J Rare Dis. 2013;8:165. 2013 | |