Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

@article{Nicole2014AgrinML,
  title={Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.},
  author={Sophie Nicole and Amina Chaouch and Torberg Torbergsen and St{\'e}phanie Bauch{\'e} and Elodie de Bruyckere and Marie-Jos{\'e}phine Fontenille and Morten A. Horn and Marijke Van Ghelue and Sissel L\oseth and Yasmin Issop and Daniel J. Cox and Juliane S. M{\"u}ller and Teresinha Evangelista and Erik St{\aa}lberg and Christine Ioos and Annie Barois and Guy Brochier and Damien Sternberg and E. Fournier and Daniel Hanta{\"i} and Angela Abicht and Marina Dusl and Steven H. Laval and Helen R. Griffin and Bruno Eymard and Hanns Lochm{\"u}ller},
  journal={Brain : a journal of neurology},
  year={2014},
  volume={137 Pt 9},
  pages={2429-43}
}
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically heterogeneous group of primary muscle disorders where weakness and atrophy are restricted to distal muscles… CONTINUE READING
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