Article
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
Prenatal diagnosis - 1 Feb 2017
Feingold-Zadok Michal, Chitayat David, Chong Karen, Injeyan Marie, Shannon Patrick, Chapmann Daphne, Maymon Ron, Pillar Nir, Reish Orit
Abstract excerpt
OBJECTIVE: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene. METHOD: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish mutation (in relevant patients) was followed by...
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