Clinical and genetic basis of congenital myasthenic syndromes

Clinical and genetic basis of congenital myasthenic syndromes

Author Sgobbi de Souza, Paulo Victor Autor UNIFESP Google Scholar
de Rezende Batistella, Gabriel Novaes Autor UNIFESP Google Scholar
Lino, Valeria Cavalcante Autor UNIFESP Google Scholar
Vieira de Rezende Pinto, Wladimir Bocca Autor UNIFESP Google Scholar
Annes, Marcelo Autor UNIFESP Google Scholar
Bulle Oliveira, Acary Souza Autor UNIFESP Google Scholar
Abstract Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.
Keywords myasthenia gravis
congenital myasthenic syndromes
genetics
Language English
Date 2016
Published in Arquivos De Neuro-Psiquiatria. Sao Paulo Sp, v. 74, n. 9, p. 750-760, 2016.
ISSN 0004-282X (Sherpa/Romeo, impact factor)
Publisher Assoc Arquivos Neuro- Psiquiatria
Extent 750-760
Origin http://dx.doi.org/10.1590/0004-282X20160106
Access rights Open access Open Access
Type Revisão
Web of Science ID WOS:000384961500012
SciELO ID S0004-282X2016000900750 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/51071

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