| 1 | MYPN, NEM11 |
| Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. | |
| Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N. | |
| Am J Hum Genet 100(1):169-178. doi: 10.1016/j.ajhg.2016.11.017. 2017 | |
| 2 | MYPN, NEM11 |
| Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. | |
| Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J. | |
| Ann Neurol nn Neurol. 2017 Feb 21. doi: 10.1002/ana.24900. [Epub ahead of print] 2017 | |