Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myasthenic mothers, characterized by bulbar and facial weakness after recovery from the generalized muscle weakness. Antibodies against fetal subunit of acetylcholine receptor seem to have a pathogenetic role leading to long-lasting injury in vulnerable muscle groups. We report a girl, born to a myasthenic mother, who presented with this peculiar phenotype associated with high titers of antibodies specific to the fetal acetylcholine receptor. Although the infant had partial clinical improvement she died prematurely of aspiration pneumonia. We believe that this is a rare but possibly unrecognized condition that should be considered in newborns wit...
We describe a 27-year-old pregnant female with new onset of conjugate gaze deficit during the third ...
A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time o...
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
Three brothers with facial diplegia and a myasthenic mother are reported from McGill University, Can...
The weakness in myasthenia gravis (MG) is mediated by autoantibodies against adult muscle acetylchol...
Acetylcholine receptor (AChR) antibodies are present in around 85% of patients with myasthenia gravi...
Arthrogryposis multiplex congenita (AMC), characterized by multiple joint contractures developing in...
Arthrogryposis multiplex congenital (AMC) describes multiple joint contractures resulting from lack ...
The weakness in myasthenia gravis (MG) is mediated by autoantibodies against adult muscle acetylchol...
We report six sibs with arthrogryposis multiplex congenita and a Pena-Shokeir phenotype, born to a h...
We describe a 27-year-old pregnant female with new onset of conjugate gaze deficit during the third ...
A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time o...
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
Three brothers with facial diplegia and a myasthenic mother are reported from McGill University, Can...
The weakness in myasthenia gravis (MG) is mediated by autoantibodies against adult muscle acetylchol...
Acetylcholine receptor (AChR) antibodies are present in around 85% of patients with myasthenia gravi...
Arthrogryposis multiplex congenita (AMC), characterized by multiple joint contractures developing in...
Arthrogryposis multiplex congenital (AMC) describes multiple joint contractures resulting from lack ...
The weakness in myasthenia gravis (MG) is mediated by autoantibodies against adult muscle acetylchol...
We report six sibs with arthrogryposis multiplex congenita and a Pena-Shokeir phenotype, born to a h...
We describe a 27-year-old pregnant female with new onset of conjugate gaze deficit during the third ...
A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time o...
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by...