Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

@article{Ochala2011DisruptedMC,
  title={Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.},
  author={Julien Ochala and Vilma-Lotta Lehtokari and Hiroyuki Iwamoto and Meishan Li and Han-Zhong Feng and Jian-Ping Jin and Naoto Yagi and Carina Wallgren-Pettersson and Isabelle P{\'e}nisson-Besnier and L. -T. Larsson},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2011},
  volume={25 6},
  pages={1903-13}
}
Nebulin is a giant protein expressed at high levels in skeletal muscle. Mutations in the nebulin gene (NEB) lead to muscle weakness and various congenital myopathies. Despite increasing clinical and scientific interest, the pathogenesis of weakness remains unknown. The present study, therefore, aims at unraveling the underlying molecular mechanisms. Hence, we recorded and analyzed the mechanics as well as the X-ray diffraction patterns of human membrane-permeabilized single muscle fibers… CONTINUE READING

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