title: Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.
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.
authors.affiliation: Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex, United Kingdom. l.brueton@ic.ac.uk
authors.forename: L A
authors.initials: LA
authors.lastname: Brueton
authors.forename: S M
authors.initials: SM
authors.lastname: Huson
authors.forename: P M
authors.initials: PM
authors.lastname: Cox
authors.forename: I
authors.initials: I
authors.lastname: Shirley
authors.forename: E M
authors.initials: EM
authors.lastname: Thompson
authors.forename: P R
authors.initials: PR
authors.lastname: Barnes
authors.forename: J
authors.initials: J
authors.lastname: Price
authors.forename: J
authors.initials: J
authors.lastname: Newsom-Davis
authors.forename: A
authors.initials: A
authors.lastname: Vincent
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology; D000328:Adult; D001176:Arthrogryposis / Q000209:etiology; D001323:Autoantibodies / Q000097:blood; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000209:etiology* / Q000235:genetics; D005192:Family Health; D005260:Female; D005313:Fetal Death; D006801:Humans; D018476:Hypokinesia / Q000209:etiology; D008297:Male; D009157:Myasthenia Gravis / Q000150:complications*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications; D011863:Radioimmunoassay; D011950:Receptors, Cholinergic / Q000276:immunology
chemical_list: D001323:Autoantibodies; D011950:Receptors, Cholinergic