1. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. Issue 12 (18th December 2003) Authors: Jakkula, E; Lohiniva, J; Capone, A; Bonafe, L; Marti, M; Schuster, V; Giedion, A; Eich, G; Boltshauser, E; Ala-Kokko, L; Superti-Furga, A Journal: Journal of medical genetics Issue: Volume 40:Issue 12(2003) Page Start: 942 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗