The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

@article{Dieterich2013TheNE,
  title={The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.},
  author={Klaus Dieterich and Susana Quijano-Roy and Nicole Monnier and Ji{\'e} Zhou and Julien Faure and Daniela Avila Smirnow and Robert Carlier and C{\'e}cile Laroche and Pascale Marcorelles and Sandra Mercier and Andr{\'e} M{\'e}garban{\'e} and Sylvie Odent and N. Garc{\'i}a Romero and Damien Sternberg and Isabelle Marty and Brigitte Estournet and Pierre-Simon Jouk and Judith Melki and Jo{\"e}l Lunardi},
  journal={Human molecular genetics},
  year={2013},
  volume={22 8},
  pages={1483-92}
}
Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt muscular or neurological signs. Although a limited number of genes mostly implicated in the contractile apparatus have been identified in DA, most patients failed to show mutations… CONTINUE READING