Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. - Demir,E.; Sabatelli,P.; Allaman,V.; Ferreiro,A.; Moghadaszadeh,B.; Makrelouf,M.; Topaloglu,H.; Echenne,B.; Merlini,L.; Guicheney,P. (Am J Hum Genet, 2002)