Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

@article{Bonaldo1998CollagenVD,
  title={Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.},
  author={Paolo Bonaldo and Paola Braghetta and Miriam Zanetti and Stefano Piccolo and Dino Volpin and Giorgio M. Bressan},
  journal={Human molecular genetics},
  year={1998},
  volume={7 13},
  pages={
          2135-40
        }
}
To gain insight into the function of type VI collagen, the col6a1 gene was inactivated by targeted gene disruption in the mouse. The homozygous mutants lacked collagen VI in the tissues and showed histological features of myopathy such as fiber necrosis and phagocytosis and a pronounced variation in the fiber diameter. Muscles also showed signs of stimulated regeneration of fibers. Necrotic fibers were particularly frequent in the diaphragm at all ages examined. Similar, although milder… 
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  • S. Lamandé, J. Bateman
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    Matrix biology : journal of the International Society for Matrix Biology
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Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
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