Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation

Affiliations

¹ Division of Pediatric Neurology, Penn State Milton S. Hershey Medical Center, 500 University Drive, Hershey, Pennsylvania, 17033, USA.
² Division of Pediatric Critical Care, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.
³ Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.

Case Reports

Ashutosh Kumar et al. Muscle Nerve. 2018 Oct.

. 2018 Oct;58(4):E23-E24.

doi: 10.1002/mus.26200. Epub 2018 Sep 3.

¹ Division of Pediatric Neurology, Penn State Milton S. Hershey Medical Center, 500 University Drive, Hershey, Pennsylvania, 17033, USA.
² Division of Pediatric Critical Care, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.
³ Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.

No abstract available

Keywords: autosomal recessive CMS; congenital myasthenic syndrome (CMS); pediatric; postsynaptic type CMS; rapsn mutation; rapsyn deficiency.

Publication types