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. 2000 May 1;92(1):1-6.
doi: 10.1002/(sici)1096-8628(20000501)92:1<1::aid-ajmg1>3.0.co;2-h.

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

L A Brueton  1 , S M Huson, P M Cox, I Shirley, E M Thompson, P R Barnes, J Price, J Newsom-Davis, A Vincent
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Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype

L A Brueton et al. Am J Med Genet. .

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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