Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.

@article{Taniguchi2006AberrantNJ,
  title={Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.},
  author={Mariko Taniguchi and Hiroki Kurahashi and Satoru Noguchi and Takayasu Fukudome and Takeshi Okinaga and Toshifumi Tsukahara and Youichi Tajima and Keiichi Ozono and Ichizo Nishino and Ikuya Nonaka and Tatsushi Toda},
  journal={Human molecular genetics},
  year={2006},
  volume={15 8},
  pages={1279-89}
}
Recent studies have revealed an association between post-translational modification of alpha-dystroglycan (alpha-DG) and certain congenital muscular dystrophies known as secondary alpha-dystroglycanopathies (alpha-DGpathies). Fukuyama-type congenital muscular dystrophy (FCMD) is classified as a secondary alpha-DGpathy because the responsible gene, fukutin, is a putative glycosyltransferase for alpha-DG. To investigate the pathophysiology of secondary alpha-DGpathies, we profiled gene expression… CONTINUE READING
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