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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Bibliografiska uppgifter
Huvudupphovsmän: Shen, Xin-Ming, Brengman, Joan M., Edvardson, Simon, Sine, Steve M., Engel, Andrew G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Lippincott Williams & Wilkins 2012
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Articles
Länkar: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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