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Article

Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.

Neuromuscular disorders : NMD - 1 Mar 2011

Witoonpanich Rawiphan, Pulkes Teeratorn, Dejthevaporn Charungthai, Yodnopklao Praphan, Witoonpanich Pirada, Wetchaphanphesat Suppachok, Brengman Joan M, Engel Andrew G

Abstract excerpt

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 generations of a large Thai kinship suffering from SCCMS and trace the disease to the p.Gly153Ser mutation in the AChR α subunit. The same mutation had previously been reported only in...

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PMID: 21316238
DOI: 10.1016/j.nmd.2010.12.006
PMCID: PMC3327811

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