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Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851
Laporte, Jocelyn; Guiraud-Chaumeil, Christophe; Vincent, Marie-Claire; Mandel, Jean-Louis; Tanner, Stephan M.; Gallati, Sabina; Wallgren-Pettersson, Carina; Dahl, Niklas; Kress, Wolfram; Bolhuis, Pieter A.; Fardeau, Michel; Samson, Françoise; Bertini, Enrico (1997). Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy. Human molecular genetics, 6(9), pp. 1505-1511. Oxford University Press 10.1093/hmg/6.9.1505