Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Human molecular genetics - 15 Apr 2013
Dieterich Klaus, Quijano-Roy Susana, Monnier Nicole, Zhou Jie, Fauré Julien, Smirnow Daniela Avila, Carlier Robert, Laroche Cécile, Marcorelles Pascale, Mercier Sandra, Mégarbané André, Odent Sylvie, Romero Norma, Sternberg Damien, Marty Isabelle, Estournet Brigitte, Jouk Pierre-Simon, Melki Judith, Lunardi Joël
Abstract excerpt
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...
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