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

✍ Scribed by Brueton, Louise A.; Huson, Susan M.; Cox, Phillip M.; Shirley, I.; Thompson, Elizabeth M.; Barnes, Phillip R.J.; Price, Julie; Newsom-Davis, John; Vincent, Angela

Book ID: 101212827
Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 33 KB
Volume: 92
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000501)92:1<1::aid-ajmg1>3.0.co;2-h

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✦ Synopsis

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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