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Title: Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship
Authors: 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
Keywords: Medicine;Neuroscience
Issue Date: 1-Mar-2011
Citation: Neuromuscular Disorders. Vol.21, No.3 (2011), 214-218
Abstract: 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.
ISSN: 09608966
Appears in Collections:Scopus 2011-2015

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