Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

Eri Arikawa-Hirasawa, Alexander H. Le, Ichizo Nishino, Ikuya Nonaka, Nicola C. Ho, Clair A. Francomano, Prasanthi Govindraj, John R. Hassell, Joseph M. Devaney, Jürgen Spranger, Roger E. Stevenson, Susan Iannaccone, Marinos C. Dalakas, Yoshihiko Yamada