Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Pierson, Christopher, Ashley Dulin-Smith, Ashley Durban, Morgan Marshall, Jordan Marshall, Andrew Snyder, Nada Naiyer, et al. 2012. “Modeling the Human MTM1 P.R69C Mutation in Murine Mtm1 Results in Exon 4 Skipping and a Less Severe Myotubular Myopathy Phenotype.”. Hum Mol Genet 21 (4): 811-25.