| 1 | CMT2W, HARS |
| Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. | |
| Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. | |
| Brain 138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13. 2015 | |
| 2 | CMT2W, HARS |
| A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. | |
| Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. | |
| Hum Mutat 34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11. 2013 | |