| 1 | EMARDD, MEGF10 |
| Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. | |
| Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, Dechene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. | |
| Neurogenetics 13(2):115-24. Epub 2012 Feb 28. 2012 | |
| 2 | EMARDD, MEGF10 |
| Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). | |
| Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA. | |
| Nat Genet 43(12):1189-92. doi: 10.1038/ng.995. 2011 | |