Congenital myasthenic syndromes

A. G. Engel

doi:10.1016/s0733-8619(18)30104-x

Congenital myasthenic syndromes

A. G. Engel

Neurology

Research output: Contribution to journal › Review article › peer-review

31 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	401-437
Number of pages	37
Journal	Neurologic clinics
Volume	12
Issue number	2
DOIs	https://doi.org/10.1016/s0733-8619(18)30104-x
State	Published - 1994

ASJC Scopus subject areas

Clinical Neurology

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10.1016/s0733-8619(18)30104-x

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title = "Congenital myasthenic syndromes",

abstract = "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.",

author = "Engel, {A. G.}",

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AU - Engel, A. G.

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AB - 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.

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DO - 10.1016/s0733-8619(18)30104-x

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Congenital myasthenic syndromes

Abstract

ASJC Scopus subject areas

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