Article
Mutations in ECEL1 cause distal arthrogryposis type 5D.
American journal of human genetics - 10 Jan 2013
McMillin Margaret J, Below Jennifer E, Shively Kathryn M, Beck Anita E, Gildersleeve Heidi I, Pinner Jason, Gogola Gloria R, Hecht Jacqueline T, Grange Dorothy K, Harris David J, Earl Dawn L, Jagadeesh Sujatha, Mehta Sarju G, Robertson Stephen P, Swanson James M, Faustman Elaine M, Mefford Heather C, Shendure Jay, Nickerson Deborah A, Bamshad Michael J
Abstract excerpt
Distal arthrogryposis (DA) syndromes are the most common of the heritable congenital-contracture disorders, and ~50% of cases are caused by mutations in genes that encode contractile proteins of skeletal myofibers. DA type 5D (DA5D) is a rare, autosomal-recessive DA previously defined by us and is characterized by congenital contractures of the hands and feet, along with distinctive facial features, including...
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