T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

@article{AlQusairi2009TtubuleDA,
  title={T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.},
  author={Lama Al-Qusairi and Norbert Weiss and Anne Toussaint and C{\'e}line Berbey and Nadia Messaddeq and Christine Kretz and Despina Sanoudou and Alan H. Beggs and Bruno Allard and Jean-Louis Mandel and Jocelyn Laporte and Vincent Jacquemond and Anna Buj-Bello},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2009},
  volume={106 44},
  pages={18763-8}
}
Skeletal muscle contraction is triggered by the excitation-contraction (E-C) coupling machinery residing at the triad, a membrane structure formed by the juxtaposition of T-tubules and sarcoplasmic reticulum (SR) cisternae. The formation and maintenance of this structure is key for muscle function but is not well characterized. We have investigated the mechanisms leading to X-linked myotubular myopathy (XLMTM), a severe congenital disorder due to loss of function mutations in the MTM1 gene… CONTINUE READING