Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. by Reschen, M, Kini, U, Hood, R, Boycott, K, Hurst, J, O'Callaghan, C

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. by Lamont, P, Wallefeld, W, Hilton-Jones, D, Udd, B, Argov, Z, Barboi, A, Bonneman, C, Boycott, K, Bushby, K, Connolly, A, Davies, N, Beggs, A, Cox, G, Dastgir, J, DeChene, E, Gooding, R, Jungbluth, H, Muelas, N, Palmio, J, Penttilä, S, Schmedding, E, Suominen, T, Straub, V, Staples, C, Van den Bergh, P