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  • Title: Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.
    Author: Brueton LA, Huson SM, Cox PM, Shirley I, Thompson EM, Barnes PR, Price J, Newsom-Davis J, Vincent A.
    Journal: Am J Med Genet; 2000 May 01; 92(1):1-6. PubMed ID: 10797415.
    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.
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