Article
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
Human mutation - 1 Dec 2005
Cotterill Sally L, Jackson Gail C, Leighton Matthew P, Wagener Raimund, Mäkitie Outi, Cole William G, Briggs Michael D
Abstract excerpt
Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in adulthood. Mutations in the matrilin-3 gene (MATN3) have recently been shown to underlie some forms of autosomal dominant MED. To date all MED mutations in matrilin-3...
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