The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

  title={The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes},
  author={P. M. Rodr{\'i}guez Cruz and Jacqueline A Palace and D. Beeson},
  journal={International Journal of Molecular Sciences},
  • P. M. Rodríguez Cruz, Jacqueline A Palace, D. Beeson
  • Published 2018
  • Medicine
  • International Journal of Molecular Sciences
  • Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired neuromuscular transmission. This review provides an overview on CMS and highlights recent advances in the field, including novel CMS causative genes and improved therapeutic strategies. CMS due to mutations in SLC5A7 and SLC18A3, impairing the synthesis and recycling of acetylcholine, have recently been described. In addition, a novel group of CMS due to mutations in SNAP25B, SYT2, VAMP1, and UNC13A1 encoding… CONTINUE READING
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