Early clinical heterogeneity in choreoacanthocytosis. by Lossos, A, Dobson-Stone, C, Monaco, A, Soffer, D, Rahamim, E, Newman, J, Mohiddin, S, Fananapazir, L, Lerer, I, Linetsky, E, Reches, A, Argov, Z, Abramsky, O, Gadoth, N, Sadeh, M, Gomori, J, Boher, M, Meiner, V

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