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Further Observations in Congenital Myasthenic Syndromes

During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of...

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Autors principals: Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Sine, Steven M.
Format: Artigo
Idioma:Inglês
Publicat: 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3478107/
https://ncbi.nlm.nih.gov/pubmed/18567859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1196/annals.1405.039
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