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A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel...

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Detalhes bibliográficos
Publicado no:Chin Med J (Engl)
Main Authors: Tan, Jia-Ze, Man, Yuan, Xiao, Fei
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5125339/
https://ncbi.nlm.nih.gov/pubmed/27779167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0366-6999.192780
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