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

Ashutosh Kumar, Sheila Asghar, Robert Kavanagh, Matthew P. Wicklund

Research output: Contribution to journalComment/debatepeer-review

2 Scopus citations
Original languageEnglish (US)
Pages (from-to)E23-E24
JournalMuscle and Nerve
Volume58
Issue number4
DOIs
StatePublished - Oct 2018
Externally publishedYes

Keywords

  • autosomal recessive CMS
  • congenital myasthenic syndrome (CMS)
  • pediatric
  • postsynaptic type CMS
  • rapsn mutation
  • rapsyn deficiency

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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