Congenital myasthenic syndromes

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations


The congenital myasthenic syndromes are uncommon but challenging disorders. They can arise from presynaptic defects that reduce quantal size or alter quantal release or from postsynaptic defects that impair quantal efficiency. This article reviews the pathologic mechanisms as well as the clinical and laboratory diagnosis in the syndromes characterized to date.

Original languageEnglish (US)
Pages (from-to)401-437
Number of pages37
JournalNeurologic clinics
Issue number2
StatePublished - 1994

ASJC Scopus subject areas

  • Clinical Neurology


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