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Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site
OBJECTIVE: To characterize the molecular basis of a novel fast-channel congenital myasthenic syndrome. METHODS: We used the candidate gene approach to identify the pathogenic mutation in the acetylcholine receptor (AChR) ɛ subunit, genetically engineered the mutant AChR into HEK cells, and evaluated...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3405251/ https://ncbi.nlm.nih.gov/pubmed/22592360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31825b5bda |
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