Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
2001
Brockington, M., Yuva, Y., Prandini, P., Brown, S.C., Torelli, S., Benson, M.A., Herrmann, R., L.V., A., Bashir, R., Burgunder, J.M., Fallet, S., Romero, N., Fardeau, M., Straub, V., Storey, G., Pollitt, C., Richard, I., Sewry, C.A., Bushby, K., Voit, T., Blake, D.J. and Muntoni, F.:
Hum Mol Genet 10 (2001) 2851-2859.