Phenotypic spectrum associated with mutations in the fuktutin-related protein gene - Mercuri, E; Brockongton, M; Straub, V; QuijanoRoy, S; Yuva, Y; Herrmann, R; Brown, SC; Torelli, S; Dubowitz, V; Blake, DJ; Romero, NB; Estournet, B; Sewry, CA; Guicheney, P; Voit, T; Muntoni, F (Ann Neurol, 2003)