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Intrafamily phenotypic heterogeneity in a large Thai slow-channel-syndrome kinship

The slow-channel congenital myasthenic syndrome (SCCMS) is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor (AChR). We here report our clinical findings in three generation of a large Thai kinship suffering from a SCCMS and trace th...

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Detalhes bibliográficos
Main Authors: Witoonpanich, Rawiphan, Pulkes, Teeratorn, Dejthevaporn, Charungthai, Yodnopklao, Praphan, Witoonpanich, Pirada, Wetchaphanphesat, Suppachok, Brengman, Joan, Engel, Andrew
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3327811/
https://ncbi.nlm.nih.gov/pubmed/21316238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.12.006
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