Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

@article{Jbsis1996TypeVC,
  title={Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures},
  author={G. Joost J{\"o}bsis and H. Keizers and Jeroen P. Vreijling and Marianne de Visser and Marcy C. Speer and Ruud A. Wolterman and Frank Baas and Pieter A. Bolhuis},
  journal={Nature Genetics},
  year={1996},
  volume={14},
  pages={113-115}
}
Among the diverse family of collagens, the widely expressed microfibrillar type VI collagen is believed to play a role in bridging cells with the extracellular matrix. Several observations imply substrate properties for cell attachment1 as well as association with major collagen fibers2. Previously, we have established genetic linkage between the genes encoding the three constituent α-chains of type VI collagen and Bethlem myopathy3–5. A distinctive feature of this autosomal dominant disorder… CONTINUE READING