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Neuromuscular Junction Acetylcholinesterase Deficiency Responsive to Albuterol
A congenital myasthenic syndrome caused by endplate acetylcholinesterase deficiency is a rare autosomal recessive disease. We report a child who had early onset ptosis, complete ophthalmoplegia, facial and proximal muscle weakness, easy fatigability, a decremental electromyographic response, and a r...
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| Publicado no: | Pediatr Neurol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4413460/ https://ncbi.nlm.nih.gov/pubmed/22759693 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2012.04.022 |
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