A MILDER PHENOTYPE OF MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY DUE TO A NOVEL CHKB MUTATION

作者:De Fuenmayor Fernandez de La Hoz Carlos Pablo; Dominguez Gonzalez Cristina; Francisco Gonzalo Martinez Juan; Esteban Perez Jesus; Fernandez Marmiesse Ana; Arenas Joaquin; Martin Miguel A; Hernandez Lain Aurelio
来源:Muscle & Nerve, 2016, 54(4): 806-808.
DOI:10.1002/mus.25183