| 1 | AIFM1, NAMSD |
| Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. | |
| Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. | |
| Am J Hum Genet 91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008. 2012 | |
| 2 | NAMSD |
| A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. | |
| Priest JM, et al. | |
| Genomics 29 : 409-412. 1995 | |
| 3 | NAMSD, CMTX1, CMTX2 |
| X-linked Charcot-Marie-Tooth (CMT) neuropathies (CMTX1, CMTX2, CMTX3) show different clinical phenotype and molecular genetics. (abstr) | |
| Ionasescu VV, et al. | |
| Am J Hum Genet 55 : A224. 1994 | |
| 4 | NAMSD, CMTX1, CMTX2 |
| Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. | |
| Ionasescu VV, et al. | |
| Am J Hum Genet 48 : 1075-1083. 1991 | |
| 5 | NAMSD |
| X-linked motor-sensory neuropathy type-II with deafness and mental retardation : a new disorder. | |
| Cowchock FS, et al. | |
| Am J Med Genet 20 : 307-315. 1985 | |