Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Johann Böhm, Edoardo Malfatti, Emily Oates, Kristi Jones, Guy Brochier, Anne Boland, Jean-François Deleuze, Norma Beatriz Romero, Jocelyn Laporte
Journal of Medical Genetics Sep 2019, 56 (9) 617-621; DOI: 10.1136/jmedgenet-2018-105390