Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington(Hammersmith Hospital), Derek J. Blake(University of Oxford), Paola Prandini(Hammersmith Hospital), S. Brown(Hammersmith Hospital), Silvia Torelli(University of Cagliari), Matthew A. Benson(University of Oxford), Chris P. Ponting(University of Oxford), B. Estournet(Hôpital Raymond-Poincaré), Norma B. Romero(Inserm), Eugenio Mercuri(Hammersmith Hospital), Thomas Voit, Caroline A. Sewry(Hammersmith Hospital), Pascale Guicheney(Inserm), Francesco Muntoni(Hammersmith Hospital)
The American Journal of Human Genetics
December 1, 2001
10.1086/324412
Cited by 597Open Access
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