Browsing by Author "Burirum Hospital"

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    Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship
    (2011-03-01) Rawiphan Witoonpanich; Teeratorn Pulkes; Charungthai Dejthevaporn; Praphan Yodnopklao; Pirada Witoonpanich; Suppachok Wetchaphanphesat; Joan M. Brengman; Andrew G. Engel; Mahidol University; Surin Hospital; Burirum Hospital; Mayo Medical School
    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 Caucasian but not in Asian patients. The clinical features include ptosis, ophthalmoparesis, and weakness of the cervical and finger extensor muscles as well as marked phenotypic heterogeneity. © 2010 Elsevier B.V.
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    Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction
    (2012-05-01) R. Witoonpanich; T. Pulkes; C. Dejthevaporn; P. Witoonpanich; P. Yodnopklao; S. Wetchaphanphesat; J. Brengman; A. G. Engel; Mahidol University; Surin Hospital; Burirum Hospital; Mayo Medical School