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Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7 [Image: see text]
BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) with a characteristic limb girdle pattern of muscle weakness. Patients usually do not respond to or worsen with the standard CMS treatments: cholinesterase inhibitors and 3,4-diaminopyridine...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Academy of Neurology
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2875925/ https://ncbi.nlm.nih.gov/pubmed/20458068 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181dd43bf |
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