Congenital myasthenic syndromes.
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.
Engel
A G
AG
Department of Neurology, Mayo Clinic and Foundation, Rochester, Minnesota.
D006801:Humans; D009157:Myasthenia Gravis / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome