| 1 | CHRNG, MPTLT1, MPTSE |
| Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. | |
| Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. | |
| Am J Hum Genet 79(2):390-5. Epub 2006 Jun 20. 2006 | |
| 2 | MPTSE, CHRNG |
| Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. | |
| Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmuller H, Hubner C, Mundlos S. | |
| Am J Hum Genet 79(2):303-12. Epub 2006 Jun 20. 2006 | |