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Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship |
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| Authors: | Witoonpanich Rawiphan Pulkes Teeratorn Dejthevaporn Charungthai Yodnopklao Praphan Witoonpanich Pirada Wetchaphanphesat Suppachok Brengman Joan M Engel Andrew G |
| Affiliation: | a Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand b Division of Medicine, Surin Hospital, Surin, Thailand c Division of Medicine, Burirum Hospital, Burirum, Thailand d Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA |
| 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. |
| Keywords: | Slow-channel congenital myasthenic syndrome Alpha subunit Acetylcholine receptor Phenotypic heterogeneity |
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