Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

@article{Hoffmann2006EscobarSI,
  title={Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.},
  author={Katrin Hoffmann and Juliane S Muller and Sigmar Stricker and Andr{\'e} M{\'e}garban{\'e} and Anna A Rajab and Tom H. Lindner and Monika Y. Cohen and Eliane Chouery and Lynn Adaimy and Ismat Ghanem and Val{\'e}rie Delague and Eugen Boltshauser and Beril Talim and Rita Horvath and Peter N. Robinson and Hanns Lochm{\"u}ller and Christoph H{\"u}bner and Stefan Mundlos},
  journal={American journal of human genetics},
  year={2006},
  volume={79 2},
  pages={303-12}
}
Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndrome and identified eight mutations within the gamma -subunit gene (CHRNG) of the AChR. Our functional studies show that gamma -subunit mutations prevent the correct localization of… CONTINUE READING
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