Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.

@article{Evans2012MutationOM,
  title={Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.},
  author={Brad R. Evans and Rebecca A. Mosig and Mollie Lobl and Chiara R Martignetti and Catalina Rivera Camacho and Valerie L. Grum-Tokars and Marc J. Glucksman and John A. Martignetti},
  journal={American journal of human genetics},
  year={2012},
  volume={91 3},
  pages={
          572-6
        }
}
The "vanishing bone" syndromes represent a group of rare skeletal disorders characterized by osteolysis and joint destruction, which can mimic severe rheumatoid arthritis. Winchester syndrome was one of the first recognized autosomal-recessive, multicentric forms of the disorder. It was originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Using cultured fibroblasts from the proband, we have now identified homozygous mutations in membrane type-1… CONTINUE READING
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Human MMP-2 Deficiency: The Multicentric Osteolysis with Nodulosis and Arthritis (MONA) and Winchester Syndromes

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