A dysfunctional desmin mutation in a patient with severe generalized myopathy

by Munoz-Marmol, Ana M., Coulombe, Pierre A., Mate, José L., Navas-Palacios, José J., Strasser, Geraldine, Isamat, Marcos, Yang, Yanmin, Roca, Xavier, Vela, Elena, Coll, Jaume, Fernández-Figueras, María Teresa, Ariza, Aurelio, Fuchs, Elaine
Published 2012