Literature DB >> 8041349

Congenital myasthenic syndromes.

A G Engel1.   

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.

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Year:  1994        PMID: 8041349

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  6 in total

Review 1.  Inborn errors of neurotransmitter receptors.

Authors:  R Surtees
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes.

Authors:  M Zhou; A G Engel; A Auerbach
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-31       Impact factor: 11.205

Review 3.  A practical guide to the recognition and management of myasthenia gravis.

Authors:  A Evoli; A P Batocchi; P Tonali
Journal:  Drugs       Date:  1996-11       Impact factor: 9.546

Review 4.  Mammalian nicotinic acetylcholine receptors: from structure to function.

Authors:  Edson X Albuquerque; Edna F R Pereira; Manickavasagom Alkondon; Scott W Rogers
Journal:  Physiol Rev       Date:  2009-01       Impact factor: 37.312

5.  Neuromuscular junctional disorders.

Authors:  A S Girija; V V Ashraf
Journal:  Indian J Pediatr       Date:  2008-08-21       Impact factor: 1.967

Review 6.  Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models.

Authors:  José David Otero-Cruz; Carlos Alberto Báez-Pagán; Luisamari Dorna-Pérez; Gary Emanuel Grajales-Reyes; Rosaura Teresa Ramírez-Ordoñez; Carlos A Luciano; Christopher Manuel Gómez; José Antonio Lasalde-Dominicci
Journal:  P R Health Sci J       Date:  2010-03       Impact factor: 0.705

  6 in total

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