1 | EPM9, LMNB2 |
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. | |
Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS. | |
Hum Mol Genet. Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7 2015 | |