Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.


Journal article


Am J Med Genet

Publication Date





1 - 6


Abnormalities, Multiple, Adult, Arthrogryposis, Autoantibodies, Child, Child, Preschool, Craniofacial Abnormalities, Family Health, Female, Fetal Death, Humans, Hypokinesia, Male, Myasthenia Gravis, Pedigree, Phenotype, Pregnancy, Pregnancy Complications, Radioimmunoassay, Receptors, Cholinergic