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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Hlavní autoři: Witoonpanich, Rawiphan, Pulkes, Teeratorn, Dejthevaporn, Charungthai, Yodnopklao, Praphan, Witoonpanich, Pirada, Wetchaphanphesat, Suppachok, Brengman, Joan, Engel, Andrew
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup: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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