Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
Ceyhan-Birsoy, Ozge, Beril Talim, Lindsay Swanson, Mert Karakaya, Michelle Graff, Alan Beggs, and Haluk Topaloglu. 2015. “Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.”. J Neuromuscul Dis 2 (1): 87-92.