Nosel POMT2 mutations associated with a marked reduction of POMT activity causing congenital muscular dystrophy with mental retardation and microcephaly

Yanagisawa, A., Van den Bergh, P., Bouchet, C., Manya, H., Quijano-Roy, S., Viollet, L., Cuisset, J., Leturcq, F., Romero, N., Fardeau, M., Seta, N., Endo, T., & Guicheney, P. (2007). Nosel POMT2 mutations associated with a marked reduction of POMT activity causing congenital muscular dystrophy with mental retardation and microcephaly. Neuromuscular Disorders, 17(9-10), 870. https://doi.org/10.1016/j.nmd.2007.06.363 (Original work published 2007)