Several missense mutations in MATN3 have been associated with MED, including p.Arg121Trp, p.Val194Asp [Chapman et al., 2001], p.Thr120Met, p.Glu134Lys, p.Ile192Asn, and p.Ala219Asp [Jackson et al., 2004]. The gene discussed is MATN3; the disease is multiple epiphyseal dysplasia.