AGRN and congenital myasthenic syndrome: In that regard, their face validity may not be a surprise, but this success using phenotype driven approaches is not limited to Npc1 and similarly valid disease models have been identified for muscular dystrophies (Lama2, Chkb), congenital myasthenic syndrome (Agrn), and peripheral neuropathies (Gars), to name just a few examples (Achilli et al. 2009; Antonellis et al. 2003; Bogdanik and Burgess 2011; Huze et al. 2009; Mitsuhashi et al. 2011; Seburn et al. 2006; Sher et al. 2006; Sunada et al. 1994; Xu et al. 1994).