Literature DB >> 10797415

Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.

L A Brueton1, S M Huson, P M Cox, I Shirley, E M Thompson, P R Barnes, J Price, J Newsom-Davis, A Vincent.   

Abstract

We report six sibs with arthrogryposis multiplex congenita and a Pena-Shokeir phenotype, born to a healthy woman who was discovered to have asymptomatic myasthenia gravis (MG). This is the first report of anti-acetylcholine receptor (AChR) antibodies causing fetal akinesia/hypokinesia sequence in the offspring of an asymptomatic mother. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID: 10797415     DOI: 10.1002/(sici)1096-8628(20000501)92:1<1::aid-ajmg1>3.0.co;2-h

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis.

Authors:  M Oskoui; L Jacobson; W K Chung; J Haddad; A Vincent; P Kaufmann; D C De Vivo
Journal:  Neurology       Date:  2008-12-09       Impact factor: 9.910

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

Authors:  Katrin Hoffmann; Juliane S Muller; Sigmar Stricker; Andre Megarbane; Anna Rajab; Tom H Lindner; Monika Cohen; Eliane Chouery; Lynn Adaimy; Ismat Ghanem; Valerie Delague; Eugen Boltshauser; Beril Talim; Rita Horvath; Peter N Robinson; Hanns Lochmüller; Christoph Hübner; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2006-06-20       Impact factor: 11.025

3.  Stereotypies and hyperactivity in rhesus monkeys exposed to IgG from mothers of children with autism.

Authors:  Loren A Martin; Paul Ashwood; Daniel Braunschweig; Maricel Cabanlit; Judy Van de Water; David G Amaral
Journal:  Brain Behav Immun       Date:  2008-02-08       Impact factor: 7.217

4.  Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkey.

Authors:  M D Bauman; A-M Iosif; P Ashwood; D Braunschweig; A Lee; C M Schumann; J Van de Water; D G Amaral
Journal:  Transl Psychiatry       Date:  2013-07-09       Impact factor: 6.222

Review 5.  Pena-Shokeir syndrome: current management strategies and palliative care.

Authors:  Sumaiya Adam; Melantha Coetzee; Engela Magdalena Honey
Journal:  Appl Clin Genet       Date:  2018-10-25
  5 in total

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