Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

@article{Guergueltcheva2011CongenitalMS,
  title={Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations},
  author={Velina Guergueltcheva and Juliane S. M{\"u}ller and Marina Dusl and Jan Senderek and Anders Oldfors and Christopher Lindbergh and Susan Maxwell and Jaume J. Colomer and Cecilia Jimenez Mallebrera and Andr{\'e}s 3 Nascimento and J J V{\'i}lchez and Nuria Muelas and Janbernd Kirschner and Shahriar Nafissi and Ariana Kariminejad and Yalda Nilipour and Bita Bozorgmehr and Hossein Najmabadi and Carmelo Rodolico and Jo¨rn P. Sieb and Beate Schlotter and Benedikt Schoser and Ralf Herrmann and Thomas Voit and Ortrud K Steinlein and Abdolhamid Najafi and Andoni J Urtizberea and Doriette M. Soler and Francesco Muntoni and Michael G. Hanna and Amina Chaouch and Volker Straub and Katharine M. D. Bushby and Jackie Palace and David Anthony Beeson and Angela Abicht and Hanns Lochm{\"u}ller},
  journal={Journal of Neurology},
  year={2011},
  volume={259},
  pages={838-850}
}
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in about half of the cases. More recently, using classical positional cloning, we have identified mutations in a previously unrecognised CMS gene… CONTINUE READING
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